Canonical Allele Identifier: PA1139679263
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 993515
ClinVar RCV Id: RCV001292217 RCV001285071 RCV001546276 RCV003953627 RCV004035526
ClinVar Variation Id: 997274
ClinVar RCV Id: RCV001292292
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001009944.3:p.Asp1162Glu
CA7832755
NM_001009944.3:c.3486C>G
CA394383004
NM_001009944.3:c.3486C>A
CA2202047762
NM_001009944.3:c.3486_3489delinsGTTT