ClinGen Allele Registry
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Canonical Allele Identifier:
PA916070701
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
380390
ClinVar RCV Id:
RCV000443580
RCV000990164
RCV001219860
RCV003168640
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Arg2207Trp
CA16608886
NM_023035.3:c.6619C>T