Canonical Allele Identifier: PA658717823
Gene: PDHA1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

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