Canonical Allele Identifier: PA2580157935
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2052118
ClinVar RCV Id: RCV002932488

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166925.1:p.Asp150_Thr154del
CA2580100428
NM_001173454.2:c.449_463del