ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449297
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000497473
RCV001046824
ClinVar Variation:
432090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Leu911Arg
CA305506421
NM_001127221.2:c.2732T>G