ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA266073
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059309
RCV002514302
ClinVar Variation:
68439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Arg195Lys
CA266071
NM_001127221.2:c.584G>A