Canonical Allele Identifier: PA2829689756
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 552332
ClinVar RCV Id: RCV000667571 RCV001003275 RCV001100918 RCV001592848 RCV003451659
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Pro1059Leu
CA1396060
NM_007123.6:c.3176C>T