Canonical Allele Identifier: PA2573193046
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 1409781
ClinVar RCV Id: RCV001916042
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.His183Arg
CA413600261
NM_001282224.2:c.548A>G