Canonical Allele Identifier: PA2825039570
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 397610
ClinVar RCV Id: RCV000449516
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Asp364Asn
CA16609446
NM_000056.5:c.1090G>A