ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139762124
Gene: USH2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
57535
ClinVar RCV:
RCV000041694
RCV001852855
RCV002307376
ClinVar Variation:
48373
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Tyr380Cys
CA143255
NM_206933.4:c.1139A>G