Canonical Allele Identifier: PA2829690507
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 295422
ClinVar RCV Id: RCV000265612 RCV000378867 RCV000840094 RCV004021420
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Thr1482Ile
CA1395708
NM_007123.6:c.4445C>T