Canonical Allele Identifier: PA1139724961
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 852844
ClinVar RCV Id: RCV001057545
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317508.1:p.Leu394Phe
CA6989422
NM_001330579.2:c.1182G>C
CA388038527
NM_001330579.2:c.1182G>T