Canonical Allele Identifier: PA091952
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 1380744
ClinVar RCV Id: RCV001886445
ClinVar Variation Id: 1459893
ClinVar RCV Id: RCV001951314
ClinVar Variation Id: 1494636
ClinVar RCV Id: RCV001989496
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000044.2:p.Phe1094Leu
CA388028751
NM_000053.4:c.3282C>G
CA388028758
NM_000053.4:c.3282C>A
CA388028775
NM_000053.4:c.3280T>C