Canonical Allele Identifier: PA1139764819
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 866067
ClinVar RCV Id: RCV001073796 RCV002505663 RCV002554679 RCV003455332 RCV003455333
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg4120His
CA1393482
NM_206933.4:c.12359G>A