ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829689793
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3187069
ClinVar RCV Id:
RCV004484433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Phe1094Ile
CA344862388
NM_007123.6:c.3280T>A