ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645415922
Gene: CACNA1S
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Arg498His
CA078266
NM_000069.3:c.1493G>A