Canonical Allele Identifier: PA2741823121
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2593984
ClinVar RCV Id: RCV003358666
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001009944.3:p.Gln4060His
CA7828735
NM_001009944.3:c.12180G>C
CA394326547
NM_001009944.3:c.12180G>T