ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108308
Gene: PKD2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000288.1:p.Asp511Val
CA123166
NM_000297.4:c.1532A>T