Canonical Allele Identifier: PA2825140265
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 860913
ClinVar RCV Id: RCV001067311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000275.1:p.Met229Ile
CA412394540
NM_000284.4:c.687G>A
CA412394541
NM_000284.4:c.687G>C
CA412394542
NM_000284.4:c.687G>T