ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825279997
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2475812
ClinVar RCV Id:
RCV003193265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Val933Ile
CA388026812
NM_001005918.3:c.2797G>A