Canonical Allele Identifier: PA2826317611
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 157933
ClinVar RCV Id: RCV000145256 RCV000415012 RCV000498564 RCV000855573 RCV002415630
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230111.1:p.Met554Ile
CA271169
NM_001243182.2:c.1662G>A
CA388025730
NM_001243182.2:c.1662G>T
CA388025737
NM_001243182.2:c.1662G>C