Canonical Allele Identifier: PA1139765050
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 198341
ClinVar RCV Id: RCV000216357 RCV000879539 RCV001073767 RCV001449650 RCV004537493
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg4493His
CA246929
NM_206933.4:c.13478G>A