ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573101680
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
593120
ClinVar RCV Id:
RCV000728073
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Gln1057Glu
CA344862623
NM_206933.4:c.3169C>G