Canonical Allele Identifier: PA2825279700
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 2505172
ClinVar RCV Id: RCV003233350

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005918.1:p.Val728Leu
CA388034432
NM_001005918.3:c.2182G>T
CA388034434
NM_001005918.3:c.2182G>C