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: PA2825039277

Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 551456

ClinVar RCV Id: RCV000666521 RCV003987655

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Met1Leu