ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916002972
Gene: ATP2C1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186110.1:p.Ser216Pro
CA16604460
NM_001199181.3:c.646T>C