ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826088270
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214941
ClinVar RCV Id:
RCV000199416
RCV000640506
RCV001526400
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166926.1:p.Ala176Val
CA323959
NM_001173455.2:c.527C>T