Canonical Allele Identifier: PA2830184823
Gene: UBE3A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570854.1:p.Phe57Leu
CA391356475
NM_130839.2:c.171T>G
CA391356476
NM_130839.2:c.171T>A
CA391356481
NM_130839.2:c.169T>C