ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830184463
Gene: UBE3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570853.1:p.Ala178Ser
CA267785992
NM_130838.1:c.532G>T