Canonical Allele Identifier: PA121229
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10893
ClinVar RCV Id: RCV000011640
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000275.1:p.Leu216Phe
CA121228
NM_000284.4:c.648A>C
CA412394433
NM_000284.4:c.648A>T