Canonical Allele Identifier: PA2573101595
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 198366
ClinVar RCV Id: RCV000215244 RCV000710342 RCV000665441 RCV000724765 RCV001276150
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ala4807Thr
CA246980
NM_206933.4:c.14419G>A