ClinGen Allele Registry
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Canonical Allele Identifier:
PA645390898
Gene: ATP7B
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000044.2:p.Tyr719Ter
NM_000053.4:c.2157del
NM_000053.4:c.2157C>A
NM_000053.4:c.2157C>G