Canonical Allele Identifier: PA2573316480
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1486818
ClinVar RCV Id: RCV002030752

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys3575Ser
CA344836162
NM_206933.4:c.10724G>C
CA344836165
NM_206933.4:c.10723T>A