ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580129859
Gene: PKD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2442651
ClinVar RCV Id:
RCV003149423
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.3:p.Leu3749Pro
CA394336176
NM_001009944.3:c.11246T>C