ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA244132
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196769
ClinVar RCV Id:
RCV000177634
RCV002298504
RCV001852195
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Arg1673Cys
CA244130
NM_001127221.2:c.5017C>T