ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA303679
Gene: CACNA1S
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000210886
RCV000455562
RCV000651228
RCV000755673
RCV000996101
RCV003318365
ClinVar Variation:
199686
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Ser177Leu
CA004075
NM_000069.3:c.530C>T