ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915966476
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
136199
ClinVar RCV Id:
RCV000144550
RCV000724262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000453.2:p.Met24Thr
CA333472
NM_000462.5:c.71T>C