Canonical Allele Identifier: PA354924
Gene: BCKDHB HGNC NCBI
ClinVar Allele:
225783
ClinVar RCV:
RCV000209790
ClinVar Variation:
224057
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Met1Ile