ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829690080
Gene: USH2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Pro1242Leu
CA10609869
NM_007123.6:c.3725C>T