ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827876149
Gene: UBE3A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000144313
ClinVar Variation:
155990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341478.1:p.Phe635Cys
CA333378
NM_001354549.2:c.1904T>G