ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825598369
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000440064
RCV000791047
RCV001068298
ClinVar Variation:
385307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Thr1996Met
CA9239512
NM_001127222.2:c.5987C>T