Canonical Allele Identifier: PA224233
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96562
ClinVar RCV Id: RCV000082719 RCV000587204 RCV000674620
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Gly336Ser
CA224232
NM_000056.5:c.1006G>A