Canonical Allele Identifier: PA2573101590
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 552713
ClinVar RCV Id: RCV000668024

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ala4246Gly
CA344849473
NM_206933.4:c.12737C>G
CA658822644
NM_206933.4:c.12737_12738delinsGG