ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826318084
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188781
ClinVar RCV Id:
RCV000169109
RCV001508716
RCV001814079
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Ala892Val
CA273949
NM_001243182.2:c.2675C>T