Canonical Allele Identifier: PA645390736
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 431956
ClinVar RCV Id: RCV000755833 RCV001239682 RCV001532891 RCV003925432 RCV004023329
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000044.2:p.Ile116Thr
CA6989581
NM_000053.4:c.347T>C