ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826279806
Gene: CACNA1E
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1371741
ClinVar RCV Id:
RCV001864631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001192222.1:p.Val346Ala
CA343846635
NM_001205293.2:c.1037T>C