ClinGen Allele Registry
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Canonical Allele Identifier:
PA658803436
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000653326
RCV002532006
RCV003411551
ClinVar Variation:
542823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Arg2151Gln
CA9239362
NM_001127221.2:c.6452G>A