Canonical Allele Identifier: PA2573101685
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 560522
ClinVar RCV Id: RCV000678651 RCV001868295
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly1346Arg
CA344866938
NM_206933.4:c.4036G>C
CA344866939
NM_206933.4:c.4036G>A