ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028381
Gene: ATP7B
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001317508.1:p.Glu458Ter
NM_001330579.2:c.1372G>T