ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658662032
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
473977
ClinVar RCV Id:
RCV000554629
RCV002483487
RCV003999450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Arg823Trp
CA079004
NM_000069.3:c.2467C>T