ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA221225
Gene: BCKDHA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93377
ClinVar RCV Id:
RCV000179780
RCV001283857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000700.1:p.Asp302Ala
CA221224
NM_000709.4:c.905A>C