Canonical Allele Identifier: PA2825038050
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 2189763
ClinVar RCV Id: RCV002611801
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000044.2:p.Val392Leu
CA6989423
NM_000053.4:c.1174G>T
CA388038564
NM_000053.4:c.1174G>C