Canonical Allele Identifier: PA1139764873
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48404

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Phe4223Leu
CA143300
NM_206933.4:c.12667T>C
CA344849998
NM_206933.4:c.12669T>G
CA344850001
NM_206933.4:c.12669T>A