ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825598709
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421988
ClinVar RCV Id:
RCV000732133
RCV000764175
RCV001087818
RCV002311805
RCV003985362
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Arg2169Cys
CA9239341
NM_001127222.2:c.6505C>T