Canonical Allele Identifier: PA2827026628
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 11938
ClinVar RCV Id: RCV003534309 RCV003460460
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.His136Tyr
CA121791
NM_001318975.1:c.406C>T