Canonical Allele Identifier: PA2826090971
Gene: PDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 559255
ClinVar RCV Id: RCV000676648

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166939.1:p.Trp147Cys
CA353361331
NM_001173468.2:c.441G>T
CA353361333
NM_001173468.2:c.441G>C