ClinGen Allele Registry
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Canonical Allele Identifier:
PA915955920
Gene: PKD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374097
ClinVar RCV Id:
RCV000415041
RCV000518237
RCV000763371
RCV001254205
RCV001292353
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.3:p.Glu2771Lys
CA16043505
NM_001009944.3:c.8311G>A