ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645434497
Gene: CACNA1E
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001192222.1:p.Ile603Leu
CA16603493
NM_001205293.2:c.1807A>C