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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1488878500
Gene: FABP2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.119320651_119320654delinsTAAA , CM000666.2:g.119320651_119320654delinsTAAA
GRCh38
NC_000004.11:g.120241806_120241809delinsTAAA , CM000666.1:g.120241806_120241809delinsTAAA
GRCh37
NC_000004.10:g.120461254_120461257delinsTAAA
NCBI36
NG_011444.1:g.6508_6511delinsTTTA
Transcript Alleles
HGVS
Amino-acid change
ENST00000274024.4:c.240+16_240+19delinsTTTA
MANE Select
ENSP00000274024.3:n.240+16_240+19delinsTTTA
ENST00000274024.3:c.240+16_240+19delinsTTTA
ENSP00000274024.3:n.240+16_240+19delinsTTTA
NM_000134.3:c.240+16_240+19delinsTTTA
NP_000125.2:n.240+16_240+19delinsTTTA
NM_000134.4:c.240+16_240+19delinsTTTA
MANE Select
NP_000125.2:n.240+16_240+19delinsTTTA
Search 100 bp 5'
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