ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827862585
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
160222
ClinVar RCV Id:
RCV000147885
RCV001850009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341434.1:p.Met110Val
CA173818
NM_001354505.1:c.328A>G