Canonical Allele Identifier: PA915993114
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214938
ClinVar RCV Id: RCV000505722 RCV000624128 RCV000692713 RCV001814100 RCV001796727
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166927.1:p.Arg72Cys
CA320653
NM_001173456.2:c.214C>T