Canonical Allele Identifier: PA645390787
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 312394
ClinVar RCV Id: RCV000367067 RCV001575381
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000044.2:p.Ser391Leu
CA6989425
NM_000053.4:c.1172C>T