Canonical Allele Identifier: PA645499299
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 388685
ClinVar RCV Id: RCV000445022 RCV001196180 RCV001085591 RCV001274227 RCV002279202 RCV002348215
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Ala334Thr
CA10458981
NM_000052.7:c.1000G>A