Canonical Allele Identifier: PA2829688017
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 498472
ClinVar RCV Id: RCV000595335 RCV000765071 RCV000826078 RCV001273814 RCV003451343
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Pro196Ser
CA1396746
NM_007123.6:c.586C>T