Canonical Allele Identifier: PA645388309
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.Met1323Ile
CA10609859
NM_206933.3:c.3969G>A
CA344867080
NM_206933.3:c.3969G>T
CA344867081
NM_206933.3:c.3969G>C