ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA117627
Gene: ATP2C1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5586
ClinVar RCV Id:
RCV000005928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001001486.1:p.Cys490Phe
CA117626
NM_001001486.2:c.1469G>T