Canonical Allele Identifier: PA1139764816
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48396
ClinVar RCV Id: RCV000041718 RCV001274935 RCV001241616 RCV001270357 RCV001376289 RCV002496660
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ser4111Phe
CA143284
NM_206933.4:c.12332C>T