ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916004843
Gene: CACNA1E
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000420940
RCV000754085
RCV001849373
ClinVar Variation:
390468
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001192223.1:p.Ile603Leu
CA16603493
NM_001205294.2:c.1807A>C