ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825598698
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166765
ClinVar RCV Id:
RCV000693394
RCV000723815
RCV002362804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Arg2165His
CA233565
NM_001127222.2:c.6494G>A