ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826317615
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157934
ClinVar RCV Id:
RCV000145257
RCV000427356
RCV002265624
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Met557Val
CA271170
NM_001243182.2:c.1669A>G