ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825598660
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000482338
RCV000764176
RCV001487619
RCV002367642
RCV003985361
ClinVar Variation:
421928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Arg2156Cys
CA9239356
NM_001127222.2:c.6466C>T