ClinGen Allele Registry
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Canonical Allele Identifier:
PA916070605
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
79331
ClinVar RCV:
RCV000059310
RCV000653342
RCV000710089
RCV000788079
RCV001174863
RCV001849176
RCV002362698
RCV003319317
ClinVar Variation:
68440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Arg2140Cys
CA266074
NM_023035.3:c.6418C>T