Canonical Allele Identifier: PA2827862542
Gene: UBE3A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341434.1:p.Glu49Asp
CA391356531
NM_001354505.1:c.147G>T
CA391356532
NM_001354505.1:c.147G>C