Canonical Allele Identifier: PA2826953174
Gene: PDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 559255
ClinVar RCV Id: RCV000676648
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001302465.1:p.Trp147Cys
CA353361331
NM_001315536.2:c.441G>T
CA353361333
NM_001315536.2:c.441G>C