Canonical Allele Identifier: PA2826953190
Gene: PDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1209620
ClinVar RCV Id: RCV001578706
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001302465.1:p.Asn176Lys
CA75456845
NM_001315536.2:c.528C>G
CA353360931
NM_001315536.2:c.528C>A