ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645415984
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
387090
ClinVar RCV Id:
RCV000437112
RCV000534363
RCV002480310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Val974Met
CA079417
NM_000069.3:c.2920G>A