ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828783033
Gene: ATP2C1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000005928
ClinVar Variation:
5586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365441.1:p.Cys490Phe
CA117626
NM_001378512.1:c.1469G>T