ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827872224
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
155998
ClinVar RCV Id:
RCV000144321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341471.1:p.Met566Lys
CA333402
NM_001354542.2:c.1697T>A