Allele Registry

Canonical Allele Identifier: PA354927

Gene: BCKDHA HGNC NCBI

ClinVar Allele:

200771

ClinVar RCV:

RCV000209796

ClinVar Variation:

204380

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Gln157Pro	CA354926 NM_000709.4:c.470A>C