Canonical Allele Identifier: PA2826638208
Gene: ATP7A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Val1221Leu
CA10459479
NM_001282224.2:c.3661G>T
CA413605210
NM_001282224.2:c.3661G>C