Canonical Allele Identifier: PA2499305564
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly4427Arg
CA344845888
NM_206933.4:c.13279G>C
CA344845890
NM_206933.4:c.13279G>A