ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826891725
Gene: PGD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291380.1:p.Pro439Ser
CA582943
NM_001304451.2:c.1315C>T