Canonical Allele Identifier: PA1139763944
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48598
ClinVar RCV Id: RCV000041924 RCV000490269 RCV000665134 RCV000937215 RCV001579280 RCV003888409
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr2781Ile
CA143623
NM_206933.4:c.8342C>T