ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573160671
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1402842
ClinVar RCV Id:
RCV001908747
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Leu548Val
CA344120603
NM_000069.3:c.1642C>G