Canonical Allele Identifier: PA1139762793
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48500
ClinVar RCV Id: RCV000041826 RCV000756884 RCV001100646 RCV001100647 RCV002496664 RCV003450839 RCV003887905
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ser1122Ala
CA143461
NM_206933.4:c.3364T>G