ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580568224
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2442755
ClinVar RCV Id:
RCV003149527
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Arg4137Gly
CA344851000
NM_206933.4:c.12409A>G