ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449687
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
422383
ClinVar RCV Id:
RCV000762254
RCV001865468
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Glu2080Lys
CA9239421
NM_001127221.2:c.6238G>A