ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658665194
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_000700.1:p.Ile361Val
CA9461367
NM_000709.4:c.1081A>G