ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645391059
Gene: ATP7B
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000044.2:p.Trp939Cys
NM_000053.4:c.2817G>C
NM_000053.4:c.2817G>T