Canonical Allele Identifier: PA2499305699
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Trp3130Arg
CA1394325
NM_206933.4:c.9388T>C
CA344825423
NM_206933.4:c.9388T>A