ClinGen Allele Registry
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Canonical Allele Identifier:
PA916069782
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059291
RCV001092223
RCV002513778
RCV003398649
ClinVar Variation:
68421
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Thr501Met
CA266034
NM_023035.3:c.1502C>T