ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830185339
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
155992
ClinVar RCV Id:
RCV000144315
RCV003389042
RCV002514772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570854.1:p.Pro847Leu
CA333384
NM_130839.2:c.2540C>T