ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825597469
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1803511
ClinVar RCV Id:
RCV002467181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Arg1345Leu
CA404340015
NM_001127222.2:c.4034G>T