Canonical Allele Identifier: PA2573101893
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 444205
ClinVar RCV Id: RCV000513442 RCV001199591
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ser1455Arg
CA344865155
NM_206933.4:c.4365T>G
CA344865157
NM_206933.4:c.4365T>A
CA344865169
NM_206933.4:c.4363A>C