ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829738827
Gene: ATP2C1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055197.2:p.Cys490Phe
CA117626
NM_014382.5:c.1469G>T