Canonical Allele Identifier: PA2826317603
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 157932
ClinVar RCV Id: RCV000145255 RCV000590476
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230111.1:p.Ser546Arg
CA271168
NM_001243182.2:c.1636A>C
CA388025948
NM_001243182.2:c.1638C>G
CA388025950
NM_001243182.2:c.1638C>A