Canonical Allele Identifier: PA2829689212
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1441712
ClinVar RCV Id: RCV001941322

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Gln748Lys
CA37501509
NM_007123.6:c.2242C>A