Canonical Allele Identifier: PA2829688317
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 438002
ClinVar RCV Id: RCV000504656 RCV000804683 RCV000824796 RCV001836644 RCV000665487 RCV001075415 RCV001834622
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Thr352Ile
CA1396612
NM_007123.6:c.1055C>T