Canonical Allele Identifier: PA658826489
Gene: ATP7B HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000044.2:p.His1247Gln
CA6988575
NM_000053.4:c.3741C>G
CA388022381
NM_000053.4:c.3741C>A