Canonical Allele Identifier: PA1139762495
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2356
ClinVar RCV Id: RCV000002450 RCV000032523 RCV000174625 RCV000239000 RCV000404009 RCV000504814 RCV000505146 RCV000623925 RCV001535506 RCV001257905 RCV001813938 RCV002251859
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys759Phe
CA252233
NM_206933.4:c.2276G>T