ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829690101
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1047507
ClinVar RCV Id:
RCV001352231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Gln1252Arg
CA344867756
NM_007123.6:c.3755A>G