Canonical Allele Identifier: PA2573171035
Gene: UBE3A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000453.2:p.Phe60Leu
CA391356475
NM_000462.5:c.180T>G
CA391356476
NM_000462.5:c.180T>A
CA391356481
NM_000462.5:c.178T>C