ClinGen Allele Registry
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Canonical Allele Identifier:
PA658829414
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194928
ClinVar RCV Id:
RCV000175409
RCV000210670
RCV000432960
RCV000660566
RCV001080527
RCV001251922
RCV003985285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Glu1018Lys
CA241161
NM_023035.3:c.3052G>A