ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139762621
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
965120
ClinVar RCV Id:
RCV001239486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Thr854Lys
CA344864530
NM_206933.4:c.2561C>A