ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669606
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000518167
RCV000810178
RCV002323878
ClinVar Variation:
446915
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000059.3:p.Arg1060His
CA9240397
NM_000068.4:c.3179G>A