ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829689324
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2118133
ClinVar RCV Id:
RCV003053548
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Cys817Arg
CA344864777
NM_007123.6:c.2449T>C