Allele Registry

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.

Canonical Allele Identifier: PA1139757922

Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 917659

ClinVar RCV Id: RCV001174774 RCV001836126

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_898871.1:p.Met1Val