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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:
CA2671895119
Gene: FABP2
HGNC
NCBI
Linked Data
gnomAD v4:
4-119320662-A-AT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.119320664dup , CM000666.2:g.119320664dup
GRCh38
NC_000004.11:g.120241819dup , CM000666.1:g.120241819dup
GRCh37
NC_000004.10:g.120461267dup
NCBI36
NG_011444.1:g.6499dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000274024.4:c.240+7dup
MANE Select
ENSP00000274024.3:n.240+7dup
ENST00000274024.3:c.240+7dup
ENSP00000274024.3:n.240+7dup
NM_000134.3:c.240+7dup
NP_000125.2:n.240+7dup
NM_000134.4:c.240+7dup
MANE Select
NP_000125.2:n.240+7dup
Search 100 bp 5'
Search 100 bp 3'