Canonical Allele Identifier: PA2499245200
Gene: ATP7A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Thr418Ser
CA10459011
NM_001282224.2:c.1252A>T
CA413602146
NM_001282224.2:c.1253C>G