Canonical Allele Identifier: PA2499249719
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 3075597
ClinVar RCV Id: RCV004017115

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317507.1:p.Val982Leu
CA388030022
NM_001330578.2:c.2944G>C
CA388030025
NM_001330578.2:c.2944G>T