Canonical Allele Identifier: PA658802241
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 533685
ClinVar RCV Id: RCV000842321 RCV001089200 RCV002252186 RCV002449009
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Asn294Tyr
CA10458969
NM_000052.7:c.880A>T