ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139744791
Gene: ATP2C1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365440.1:p.Ser246Leu
CA2614878
NM_001378511.1:c.737C>T