ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139764292
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
505526
ClinVar RCV Id:
RCV000615396
RCV001829711
RCV001317800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Cys3306Tyr
CA1394181
NM_206933.4:c.9917G>A