ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669636
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000518729
RCV000807225
RCV001528226
ClinVar Variation:
446936
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000059.3:p.Ala2011Thr
CA9239505
NM_000068.4:c.6031G>A