ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826318665
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444316
ClinVar RCV Id:
RCV000513406
RCV000670982
RCV003488645
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Gly1294Ser
CA6988455
NM_001243182.2:c.3880G>A