ClinGen Allele Registry
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Canonical Allele Identifier:
PA3057243216
Gene: PDHA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166927.1:p.Pro328_Ser339dup
CA121224
NM_001173456.2:c.981_1016dup