Canonical Allele Identifier: PA2829689223
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1990676
ClinVar RCV Id: RCV002801052

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Ser754Leu
CA344865358
NM_007123.6:c.2261C>T