Canonical Allele Identifier: PA2827026693
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 65771
ClinVar RCV Id: RCV000056009 RCV000762424 RCV000587416
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Gly208Ser
CA224347
NM_001318975.1:c.622G>A