Canonical Allele Identifier: PA2573101730
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 225513
ClinVar RCV Id: RCV000490448 RCV000665617 RCV002282046 RCV002517445
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Asn2334Asp
CA1394970
NM_206933.4:c.7000A>G