Canonical Allele Identifier: PA143291
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.Trp4149Arg
CA143290
NM_206933.3:c.12445T>C
CA344850887
NM_206933.3:c.12445T>A