Canonical Allele Identifier: PA2580566451
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ser391Arg
CA1396581
NM_206933.4:c.1173T>A
CA344912061
NM_206933.4:c.1173T>G
CA344912077
NM_206933.4:c.1171A>C