Canonical Allele Identifier: PA2829690393
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Gln1417His
CA344866062
NM_007123.6:c.4251G>T
CA344866063
NM_007123.6:c.4251G>C