Canonical Allele Identifier: PA2825140253
Gene: PDHA1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000275.1:p.Trp214Cys
CA412394402
NM_000284.4:c.642G>C
CA412394404
NM_000284.4:c.642G>T