ClinGen Allele Registry
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Canonical Allele Identifier:
PA354911
Gene: BCKDHB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
225785
ClinVar RCV:
RCV000209422
ClinVar Variation:
224054
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000047.1:p.Val98Gly
CA354910
NM_000056.5:c.293T>G