ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825596978
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392867
ClinVar RCV Id:
RCV000434119
RCV002522708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Ser1040Leu
CA9240407
NM_001127222.2:c.3119C>T