ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658803890
Gene: CACNA1S
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
515342
ClinVar RCV:
RCV000651253
RCV001084742
RCV003953182
ClinVar Variation:
541060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Arg1254Gln
CA082807
NM_000069.3:c.3761G>A