Canonical Allele Identifier: PA354921
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 224055
ClinVar RCV Id: RCV000209747
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Pro185Leu
CA354920
NM_000056.5:c.554C>T