ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645449339
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
387025
ClinVar RCV Id:
RCV000418250
RCV001058158
RCV003993961
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Arg988Pro
CA16608158
NM_001127221.2:c.2963G>C