Canonical Allele Identifier: PA312366
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 203639
ClinVar RCV Id: RCV000185797 RCV000209023
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Ile341Asn
CA312365
NM_000056.5:c.1022T>A