Canonical Allele Identifier: PA658717823
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 488568
ClinVar RCV Id: RCV000578270
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000275.1:p.Ser152Leu
CA412393200
NM_000284.4:c.455C>T