Canonical Allele Identifier: PA179575
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.Val1165Leu
CA179574
NM_206933.3:c.3493G>C
CA344868417
NM_206933.3:c.3493G>T