ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573160712
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1418402
ClinVar RCV Id:
RCV001952103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Val947Leu
CA344101248
NM_000069.3:c.2839G>C