ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449867
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
388678
ClinVar RCV Id:
RCV000427955
RCV002522456
RCV003144262
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Ala2258Thr
CA16608876
NM_001127221.2:c.6772G>A