ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827862677
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
136204
ClinVar RCV Id:
RCV000144555
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341434.1:p.Asp232Val
CA333481
NM_001354505.1:c.695A>T