Canonical Allele Identifier: PA107598
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10882
ClinVar RCV Id: RCV000011629
ClinVar Variation Id: 2795237
ClinVar RCV Id: RCV003621954

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000275.1:p.Phe205Leu
CA121217
NM_000284.4:c.615C>G
CA412394264
NM_000284.4:c.613T>C
CA412394274
NM_000284.4:c.615C>A