ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645458935
Gene: PKD2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000288.1:p.Arg325Ter
NM_000297.4:c.973C>T