Canonical Allele Identifier: PA645389010
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.Ser2498Arg
CA1394821
NM_206933.3:c.7494T>A
CA344848537
NM_206933.3:c.7494T>G
CA344848560
NM_206933.3:c.7492A>C