ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499289592
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1011490
ClinVar RCV Id:
RCV001309295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Arg944Lys
CA404342657
NM_023035.3:c.2831G>A