Canonical Allele Identifier: PA323095
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214936
ClinVar RCV Id: RCV000198575 RCV000497402 RCV001788065 RCV001796726
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000275.1:p.Arg378Cys
CA323094
NM_000284.4:c.1132C>T