Canonical Allele Identifier: PA2829690281
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 550393
ClinVar RCV Id: RCV000665126 RCV002530645 RCV003451632 RCV003451631 RCV003889944
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Thr1357Met
CA1395839
NM_007123.6:c.4070C>T