ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825109321
Gene: PKD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1315254
ClinVar RCV Id:
RCV001774504
RCV002503233
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000287.4:p.Ala830Val
CA7833200
NM_000296.4:c.2489C>T