Canonical Allele Identifier: PA2826318171
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 3075597
ClinVar RCV Id: RCV004017115

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230111.1:p.Val949Leu
CA388030022
NM_001243182.2:c.2845G>C
CA388030025
NM_001243182.2:c.2845G>T