Canonical Allele Identifier: PA2573101966
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 284008
ClinVar RCV Id: RCV000321105

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Leu4148Pro
CA10604658
NM_206933.4:c.12443T>C