ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826088181
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3063875
ClinVar RCV Id:
RCV003988463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166926.1:p.Pro117Ala
CA412390982
NM_001173455.2:c.349C>G