Canonical Allele Identifier: PA2573315786
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1390129
ClinVar RCV Id: RCV001917521

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gln1063His
CA344862582
NM_206933.4:c.3189A>T
CA344862583
NM_206933.4:c.3189A>C