Canonical Allele Identifier: PA2573310472
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_898871.1:p.Gln57His
CA364658403
NM_183050.3:c.171G>C
CA364658404
NM_183050.3:c.171G>T