ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825110800
Gene: PKD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000287.4:p.Arg2643Cys
CA394366122
NM_000296.4:c.7927C>T