ClinGen Allele Registry
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Canonical Allele Identifier:
PA915993106
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214936
ClinVar RCV Id:
RCV000198575
RCV000497402
RCV001788065
RCV001796726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166925.1:p.Arg416Cys
CA323094
NM_001173454.2:c.1246C>T