Canonical Allele Identifier: PA2826317928
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 3075464
ClinVar RCV Id: RCV004016982
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230111.1:p.Thr783Ser
CA388034332
NM_001243182.2:c.2348C>G
CA388034335
NM_001243182.2:c.2347A>T