Canonical Allele Identifier: PA256070
Gene: ATP7A HGNC NCBI
ClinVar RCV:
RCV000012555
ClinVar Variation:
11788
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Gly1019Asp
CA256069
NM_000052.7:c.3056G>A