ClinGen Allele Registry
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Canonical Allele Identifier:
PA915988924
Gene: BCKDHA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204378
ClinVar RCV Id:
RCV000209016
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158255.1:p.Arg159Gln
CA354907
NM_001164783.2:c.476G>A