Canonical Allele Identifier: PA2573193040
Gene: ATP7A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Ile139Leu
CA413599758
NM_001282224.2:c.415A>T
CA413599760
NM_001282224.2:c.415A>C