Canonical Allele Identifier: PA107490
Gene: PDHA1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000275.1:p.Arg288His
CA121226
NM_000284.4:c.863G>A