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: PA2573066392

Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 1323975

ClinVar RCV Id: RCV001780680 RCV003892844

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158255.1:p.Ala216Val	CA9461230 NM_001164783.2:c.647C>T