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: PA2825241662

Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 1685253

ClinVar RCV Id: RCV002248980

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Ala248Val	CA308524255 NM_000709.4:c.743C>T