Canonical Allele Identifier: PA1139690547
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 992715
ClinVar RCV Id: RCV001281432 RCV001871632
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166925.1:p.Glu372Lys
CA412396285
NM_001173454.2:c.1114G>A