ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240437
Gene: PKD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194468
ClinVar RCV Id:
RCV000174840
RCV002056924
RCV003975278
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000288.1:p.Ser949Cys
CA240436
NM_000297.4:c.2846C>G