Canonical Allele Identifier: PA1139762808
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 133312
ClinVar RCV Id: RCV000119824 RCV000675179 RCV001089677 RCV000787729 RCV001231408
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ser1136Asn
CA269917
NM_206933.4:c.3407G>A