Canonical Allele Identifier: PA2829690218
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 295428
ClinVar RCV Id: RCV000264965 RCV000359614
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Met1323Ile
CA10609859
NM_007123.6:c.3969G>A
CA344867080
NM_007123.6:c.3969G>T
CA344867081
NM_007123.6:c.3969G>C