ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658717828
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488569
ClinVar RCV Id:
RCV000578359
RCV001824834
RCV001091316
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000275.1:p.Asn164Ser
CA412393370
NM_000284.4:c.491A>G