ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828783198
Gene: ATP2C1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000005930
ClinVar Variation:
5588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365443.1:p.Leu568Pro
CA117628
NM_001378514.1:c.1703T>C