ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645469312
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418572
ClinVar RCV Id:
RCV000478539
RCV000690582
RCV003900014
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570853.1:p.Arg506Cys
CA16619907
NM_130838.1:c.1516C>T