ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826004243
Gene: BCKDHA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93336
ClinVar RCV Id:
RCV000180182
RCV000790816
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158255.1:p.Arg345His
CA221177
NM_001164783.2:c.1034G>A