ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827872416
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_001341472.1:p.Met1Thr