ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826004255
Gene: BCKDHA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
457140
ClinVar RCV Id:
RCV000549241
RCV001536367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158255.1:p.Ile360Val
CA9461367
NM_001164783.2:c.1078A>G