ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825226729
Gene: ATP2C1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5586
ClinVar RCV Id:
RCV000005928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001001485.1:p.Cys490Phe
CA117626
NM_001001485.3:c.1469G>T