Canonical Allele Identifier: PA915955510
Gene: ATP7A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Leu1452Phe
CA10459547
NM_000052.7:c.4356G>C
CA413606244
NM_000052.7:c.4356G>T