Canonical Allele Identifier: PA2573101802
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 236537
ClinVar RCV Id: RCV000225477 RCV000482491 RCV000675144 RCV001252669 RCV003324522 RCV003137832 RCV003469118 RCV004532830
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg3905Cys
CA1393629
NM_206933.4:c.11713C>T