ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825111389
Gene: PKD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
192320
ClinVar RCV Id:
RCV000192215
RCV000497386
RCV001254214
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000287.4:p.Arg3277Cys
CA347279
NM_000296.4:c.9829C>T