Canonical Allele Identifier: PA1139764489
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 990779
ClinVar RCV Id: RCV001278871

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly3556Arg
CA344836637
NM_206933.4:c.10666G>C
CA344836642
NM_206933.4:c.10666G>A