Canonical Allele Identifier: PA2829689214
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1377823
ClinVar RCV Id: RCV001880852

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Asn750Lys
CA344865409
NM_007123.6:c.2250C>G
CA344865412
NM_007123.6:c.2250C>A