ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA341481
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17631
ClinVar RCV Id:
RCV000019198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Val876Glu
CA004028
NM_000069.3:c.2627T>A