ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139762771
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
961960
ClinVar RCV Id:
RCV001235728
RCV001834048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Asn1071Ser
CA1396050
NM_206933.4:c.3212A>G