ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580567980
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1948989
ClinVar RCV Id:
RCV002659258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Pro3671Ala
CA344826982
NM_206933.4:c.11011C>G