Canonical Allele Identifier: PA2825110511
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447998
ClinVar RCV Id: RCV000516279 RCV001573533 RCV001254226
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000287.4:p.Thr2322Met
CA7831358
NM_000296.4:c.6965C>T