Canonical Allele Identifier: PA2829690246
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2261806
ClinVar RCV Id: RCV002807961

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Arg1338Ser
CA344866983
NM_007123.6:c.4014A>C
CA344866984
NM_007123.6:c.4014A>T