ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916006176
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495414
ClinVar RCV Id:
RCV000674801
RCV002261126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Val995Ile
CA6988741
NM_001243182.2:c.2983G>A