Canonical Allele Identifier: PA2573101589
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 555105
ClinVar RCV Id: RCV000670856 RCV002265845 RCV003453310 RCV003453311 RCV003558512
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ala3944Asp
CA344829065
NM_206933.4:c.11831C>A