ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826236477
Gene: ATP2C1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5588
ClinVar RCV Id:
RCV000005930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186114.1:p.Leu584Pro
CA117628
NM_001199185.2:c.1751T>C