ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA117623
Gene: ATP2C1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5582
ClinVar RCV Id:
RCV000005924
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001001486.1:p.Ala304Thr
CA117622
NM_001001486.2:c.910G>A