ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826105100
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
385634
ClinVar RCV Id:
RCV000440421
RCV000553097
RCV002318456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167551.1:p.Arg1057Cys
CA9240398
NM_001174080.2:c.3169C>T