Canonical Allele Identifier: PA1139763603
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 228220
ClinVar RCV Id: RCV000216840 RCV001271995 RCV004532749 RCV000667038 RCV001495426
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ile2189Val
CA1395103
NM_206933.4:c.6565A>G