ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658662075
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
473988
ClinVar RCV Id:
RCV000546815
RCV002506366
RCV003487272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Ile1195Thr
CA082633
NM_000069.3:c.3584T>C