Canonical Allele Identifier: PA2826605671
Gene: ATP7A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Leu1374Phe
CA10459547
NM_001282224.2:c.4122G>C
CA413606244
NM_001282224.2:c.4122G>T