ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573316627
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1353228
ClinVar RCV Id:
RCV001863290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Ile4102Val
CA1393493
NM_206933.4:c.12304A>G