ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254417
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8487
ClinVar RCV Id:
RCV000009008
RCV001533156
RCV002512926
RCV003231095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Arg192Gln
CA254415
NM_001127221.2:c.575G>A