Canonical Allele Identifier: PA2829690254
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 438020
ClinVar RCV Id: RCV000504740 RCV000666331 RCV001004872 RCV001073650 RCV001239324 RCV001578842 RCV002222539
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Asn1343His
CA1395850
NM_007123.6:c.4027A>C