Canonical Allele Identifier: PA1139763239
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 179773
ClinVar RCV Id: RCV000156571 RCV000505112 RCV000725477 RCV001004787 RCV004528894 RCV003462063 RCV003991016
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly1671Asp
CA185105
NM_206933.4:c.5012G>A