Canonical Allele Identifier: PA1139765204
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly4692Arg
CA143334
NM_206933.4:c.14074G>A
CA344840271
NM_206933.4:c.14074G>C
CA658832924
NM_206933.4:c.[14074G>A;12394del]