Canonical Allele Identifier: PA2825037305
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 2111337
ClinVar RCV Id: RCV003045941
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000043.4:p.Tyr594His
CA413597126
NM_000052.7:c.1780T>C