Canonical Allele Identifier: PA915993030
Gene: PDHA1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166925.1:p.Arg326His
CA121226
NM_001173454.2:c.977G>A