Canonical Allele Identifier: PA916012651
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 705791
ClinVar RCV Id: RCV000876194 RCV001274232 RCV001692311 RCV002399963 RCV003908329
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269153.1:p.Arg590Gly
CA10459103
NM_001282224.2:c.1768A>G