ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993002
Gene: PDHA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166925.1:p.Pro288Leu
CA412394683
NM_001173454.2:c.863C>T