ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916069798
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420057
ClinVar RCV Id:
RCV000487043
RCV002526562
RCV002470870
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Glu533Lys
CA16620797
NM_023035.3:c.1597G>A