ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825013048
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68434
ClinVar RCV Id:
RCV000059304
RCV001212963
RCV003144120
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000059.3:p.Arg1684Cys
CA266056
NM_000068.4:c.5050C>T