Canonical Allele Identifier: PA2829688787
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48472
ClinVar RCV Id: RCV000041795 RCV001003284 RCV000415970 RCV001101110 RCV001376290
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Leu555Val
CA143415
NM_007123.6:c.1663C>G