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: PA110219

Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93367

ClinVar RCV Id: RCV000179335 RCV000790736 RCV001831820

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Ala220Val	CA221207 NM_000709.4:c.659C>T