ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254432
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8495
ClinVar RCV Id:
RCV000009017
RCV000517293
RCV001381850
RCV001542800
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Arg1660His
CA254430
NM_001127222.2:c.4979G>A