Canonical Allele Identifier: PA143335
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.Gly4692Arg
CA143334
NM_206933.3:c.14074G>A
CA344840271
NM_206933.3:c.14074G>C
CA658832924
NM_206933.3:c.[14074G>A;12394del]