Canonical Allele Identifier: PA2829738843
Gene: ATP2C1 HGNC NCBI
ClinVar RCV:
RCV000005930
ClinVar Variation:
5588
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055197.2:p.Leu584Pro
CA117628
NM_014382.5:c.1751T>C