Canonical Allele Identifier: PA645454230
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430418
ClinVar RCV Id: RCV000493478
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000275.1:p.Ala349Val
CA412396526
NM_000284.4:c.1046C>T