ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826236389
Gene: ATP2C1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186113.1:p.Cys474Phe
CA117626
NM_001199184.3:c.1421G>T