ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825039279
Gene: BCKDHB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
917659
ClinVar RCV Id:
RCV001174774
RCV001836126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000047.1:p.Met1Val