ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825280134
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002248978
ClinVar Variation:
1685251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Asn1063Ile
CA6988565
NM_001005918.3:c.3188A>T