Canonical Allele Identifier: PA2580568137
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2004868
ClinVar RCV Id: RCV002820606

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly3993Val
CA344827188
NM_206933.4:c.11978G>T
CA2580062167
NM_206933.4:c.11978_11979delinsTT