Canonical Allele Identifier: PA1139762950
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 846734
ClinVar RCV Id: RCV001050116 RCV001271228 RCV002222663 RCV003455214
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Asn1313Ser
CA1395866
NM_206933.4:c.3938A>G