ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110925
Gene: ATP2C1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001186108.1:p.Leu584Pro
NM_001199179.3:c.1751T>C