Canonical Allele Identifier: PA2827026633
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 390609
ClinVar RCV Id: RCV000429032 RCV000675115
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Val143Phe
CA16604994
NM_001318975.1:c.427G>T