ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825598042
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420055
ClinVar RCV Id:
RCV000485872
RCV000853325
RCV001851179
RCV002227166
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Ser1798Leu
CA16620778
NM_001127222.2:c.5393C>T