ClinGen Allele Registry
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Canonical Allele Identifier:
PA645415969
Gene: CACNA1S
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
279658
ClinVar RCV:
RCV000397662
RCV000524917
RCV001081318
RCV001723879
RCV003517181
RCV003957539
ClinVar Variation:
294744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Ala814Thr
CA078993
NM_000069.3:c.2440G>A