Canonical Allele Identifier: PA1139762179
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2359
ClinVar RCV Id: RCV000002453 RCV000224697 RCV000504809 RCV000778222 RCV000824795 RCV000984315 RCV001074823 RCV002482817
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys419Phe
CA252239
NM_206933.4:c.1256G>T