Canonical Allele Identifier: PA2573102064
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 286836
ClinVar RCV Id: RCV000373313 RCV000504866 RCV000670917 RCV000826074 RCV001073464 RCV001274241
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ser2492Leu
CA1394829
NM_206933.4:c.7475C>T