ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645415819
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
294774
ClinVar RCV Id:
RCV000357931
RCV000553064
RCV000996099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Thr248Met
CA083982
NM_000069.3:c.743C>T