Canonical Allele Identifier: PA1139762081
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 228411
ClinVar RCV Id: RCV000213203 RCV000668930 RCV000822071 RCV001074876 RCV001003287 RCV001273812 RCV003454598
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg334Trp
CA1396625
NM_206933.4:c.1000C>T