ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826318177
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157945
ClinVar RCV Id:
RCV000145270
RCV000675167
RCV001508710
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Ala952Val
CA171310
NM_001243182.2:c.2855C>T