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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:
CA358027306
Gene: FABP2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr4:g.120241912T>A (hg19)
chr4:g.119320757T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.119320757T>A , CM000666.2:g.119320757T>A
GRCh38
NC_000004.11:g.120241912T>A , CM000666.1:g.120241912T>A
GRCh37
NC_000004.10:g.120461360T>A
NCBI36
NG_011444.1:g.6405A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000274024.4:c.153A>T
MANE Select
ENSP00000274024.3:p.Lys51Asn
ENST00000274024.3:c.153A>T
ENSP00000274024.3:p.Lys51Asn
NM_000134.3:c.153A>T
NP_000125.2:p.Lys51Asn
NM_000134.4:c.153A>T
MANE Select
NP_000125.2:p.Lys51Asn
Search 100 bp 5'
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