Canonical Allele Identifier: PA1139762949
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 972400
ClinVar RCV Id: RCV001248421 RCV001835335 RCV002484397 RCV003449800
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Asn1313Asp
CA1395867
NM_206933.4:c.3937A>G