ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830184805
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_570854.1:p.Met21Thr
CA333472
NM_130839.2:c.62T>C