ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825110580
Gene: PKD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448002
ClinVar RCV Id:
RCV000517362
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000287.4:p.Trp2405Leu
CA394371289
NM_000296.4:c.7214G>T