ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826004325
Gene: BCKDHA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2534031
ClinVar RCV Id:
RCV003276065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158255.1:p.Asp443Asn
CA9461433
NM_001164783.2:c.1327G>A