ClinGen Allele Registry
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Canonical Allele Identifier:
PA916070647
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000345600
RCV000556625
RCV000726322
RCV002314030
ClinVar Variation:
289416
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Arg2161Leu
CA9239357
NM_023035.3:c.6482G>T