Canonical Allele Identifier: PA2573101682
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 550234
ClinVar RCV Id: RCV000664928 RCV002530641 RCV003451629 RCV003451630 RCV003889943
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Glu1199del
CA658822782
NM_206933.4:c.3596_3598del