Canonical Allele Identifier: PA2827026785
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2691620
ClinVar RCV Id: RCV003490825
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Met319Leu
CA365021629
NM_001318975.1:c.955A>T
CA365021630
NM_001318975.1:c.955A>C