ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669075
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450300
ClinVar RCV Id:
RCV000694727
RCV000991680
RCV002525162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Thr1997Ala
CA9239514
NM_001127221.2:c.5989A>G