Canonical Allele Identifier: PA2826088883
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10893
ClinVar RCV Id: RCV000011640

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166927.1:p.Leu185Phe
CA121228
NM_001173456.2:c.555A>C
CA412394433
NM_001173456.2:c.555A>T