ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825596835
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059297
RCV000116521
RCV001515628
RCV002311538
ClinVar Variation:
68427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Glu992Val
CA152094
NM_001127222.2:c.2975A>T