ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449677
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
386310
ClinVar RCV Id:
RCV000418343
RCV001299494
RCV002356582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Asp2055Asn
CA9239460
NM_001127221.2:c.6163G>A