ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825597480
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421023
ClinVar RCV Id:
RCV000486810
RCV003766687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Arg1348Trp
CA16620787
NM_001127222.2:c.4042C>T