ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826317921
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
186895
ClinVar RCV:
RCV000169535
RCV000514615
ClinVar Variation:
189121
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Val779Met
CA274401
NM_001243182.2:c.2335G>A