ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA323960
Gene: PDHA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000275.1:p.Ala169Val
NM_000284.4:c.506C>T