Canonical Allele Identifier: PA121207
Gene: PDHA1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000275.1:p.Lys313del
CA121206
NM_000284.4:c.938_940del