ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826318341
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
186881
ClinVar RCV:
RCV000169260
RCV002254281
RCV002453567
ClinVar Variation:
188900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Gly1075Ser
CA274098
NM_001243182.2:c.3223G>A