Canonical Allele Identifier: PA2741820075
Gene: PDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2528182
ClinVar RCV Id: RCV003290622

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000916.2:p.Arg192Leu
CA353360964
NM_000925.4:c.575G>T