Canonical Allele Identifier: PA916012720
Gene: ATP7A HGNC NCBI
ClinVar RCV:
RCV000012555
ClinVar Variation:
11788
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Gly941Asp
CA256069
NM_001282224.2:c.2822G>A