ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916070307
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000177634
RCV001852195
RCV002298504
ClinVar Variation:
196769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Arg1678Cys
CA244130
NM_023035.3:c.5032C>T