Canonical Allele Identifier: PA117627
Gene: ATP2C1 HGNC NCBI
ClinVar RCV:
RCV000005928
ClinVar Variation:
5586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001001486.1:p.Cys490Phe
CA117626
NM_001001486.2:c.1469G>T