Canonical Allele Identifier: PA916012650
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 654204
ClinVar RCV Id: RCV000810116
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.His589Gln
CA413597059
NM_001282224.2:c.1767C>A
CA413597061
NM_001282224.2:c.1767C>G