ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827328269
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1771226
ClinVar RCV Id:
RCV002381104
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.His344Arg
CA388039418
NM_001330579.2:c.1031A>G