ClinGen Allele Registry
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Canonical Allele Identifier:
PA091913
Gene: ATP7B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
186892
ClinVar RCV:
RCV000169455
RCV001531800
ClinVar Variation:
189058
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Gly943Asp
CA274329
NM_000053.4:c.2828G>A