Canonical Allele Identifier: PA1139761979
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48572
ClinVar RCV Id: RCV000041898 RCV000126255 RCV001097446 RCV001273813 RCV003888405
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Val230Met
CA143578
NM_206933.4:c.688G>A