ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993107
Gene: PDHA1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001166925.1:p.Lys425Gln
NM_001173454.2:c.1273A>C