ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573102137
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424928
ClinVar RCV Id:
RCV000488312
RCV001199584
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Tyr4710Ser
CA16621585
NM_206933.4:c.14129A>C