Canonical Allele Identifier: PA2826318517
Gene: ATP7B HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230111.1:p.Leu1193Phe
CA6988535
NM_001243182.2:c.3579G>T
CA388021237
NM_001243182.2:c.3579G>C
CA658798147
NM_001243182.2:c.3579_3580delinsTT