ClinGen Allele Registry
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Canonical Allele Identifier:
PA645415814
Gene: CACNA1S
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
279688
ClinVar RCV:
RCV000275090
RCV000383532
RCV000704043
RCV001775757
RCV002522094
ClinVar Variation:
294777
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Ala200Thr
CA083920
NM_000069.3:c.598G>A