Canonical Allele Identifier: PA2825036923
Gene: ATP7A HGNC NCBI
ClinVar RCV:
RCV003785898
ClinVar Variation:
2924148
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Gln104Pro
CA413599405
NM_000052.7:c.311A>C