ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573063641
Gene: BCKDHA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001810551
ClinVar Variation:
1334170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000700.1:p.Arg287Gly
CA9461289
NM_000709.4:c.859C>G