ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580460369
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2126991
ClinVar RCV Id:
RCV003047563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Leu323Val
CA404346933
NM_023035.3:c.967C>G