Canonical Allele Identifier: PA2580119070
Gene: PDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2043790
ClinVar RCV Id: RCV002913254
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000916.2:p.Gln345His
CA75454677
NM_000925.4:c.1035G>C
CA353356667
NM_000925.4:c.1035G>T