Canonical Allele Identifier: PA2827329730
Gene: ATP7B HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317508.1:p.Thr992Ile
CA388029805
NM_001330579.2:c.2975C>T
CA2695218738
NM_001330579.2:c.2975_2979delinsTCAAG