Canonical Allele Identifier: PA2573101784
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 209203
ClinVar RCV Id: RCV000191142 RCV000484923 RCV000504830 RCV000675180 RCV001002723 RCV001073310 RCV001804928
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Glu3448Lys
CA276181
NM_206933.4:c.10342G>A