ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825593421
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446936
ClinVar RCV Id:
RCV000518729
RCV000807225
RCV001528226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Ala2006Thr
CA9239505
NM_001127221.2:c.6016G>A