Canonical Allele Identifier: PA1139765140
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Phe4602Leu
CA1393218
NM_206933.4:c.13804T>C
CA344843195
NM_206933.4:c.13806T>A
CA344843198
NM_206933.4:c.13806T>G