Canonical Allele Identifier: PA658802251
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 517141
ClinVar RCV Id: RCV000615428 RCV001755993 RCV003767739
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Val597Met
CA10459109
NM_000052.7:c.1789G>A