ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA325045
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214937
ClinVar RCV Id:
RCV000200467
RCV001079335
RCV002363013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000275.1:p.Lys387Gln
CA325044
NM_000284.4:c.1159A>C