Canonical Allele Identifier: PA2825039339
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1400559
ClinVar RCV Id: RCV001932760
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Gln57His
CA364658403
NM_000056.5:c.171G>C
CA364658404
NM_000056.5:c.171G>T