Canonical Allele Identifier: PA2827330291
Gene: ATP7B HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317508.1:p.Leu1220Phe
CA6988535
NM_001330579.2:c.3660G>T
CA388021237
NM_001330579.2:c.3660G>C
CA658798147
NM_001330579.2:c.3660_3661delinsTT