Canonical Allele Identifier: PA2827026778
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96569
ClinVar RCV Id: RCV000082727
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Tyr313Asp
CA224256
NM_001318975.1:c.937T>G