Canonical Allele Identifier: PA1139762483
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Asp703Glu
CA344866249
NM_206933.4:c.2109T>G
CA344866252
NM_206933.4:c.2109T>A