Canonical Allele Identifier: PA2826317308
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 852844
ClinVar RCV Id: RCV001057545

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230111.1:p.Leu283Phe
CA6989422
NM_001243182.2:c.849G>C
CA388038527
NM_001243182.2:c.849G>T