ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827329272
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_001317508.1:p.Val806Met
CA274401
NM_001330579.2:c.2416G>A