ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA354924
Gene: BCKDHB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224057
ClinVar RCV Id:
RCV000209790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000047.1:p.Met1Ile