Canonical Allele Identifier: PA143586
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.Asn2356Lys
CA143585
NM_206933.3:c.7068T>G
CA344852029
NM_206933.3:c.7068T>A