Canonical Allele Identifier: PA2573101810
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1321805
ClinVar RCV Id: RCV001779897 RCV003451927 RCV003451928
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg4187Cys
CA1393452
NM_206933.4:c.12559C>T