ClinGen Allele Registry
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Canonical Allele Identifier:
PA091866
Gene: ATP7B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000044.2:p.Gln1142His
NM_000053.4:c.3426G>C
NM_000053.4:c.3426G>T