ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254462
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000009023
ClinVar Variation:
8500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000059.3:p.Glu1761Lys
CA254457
NM_000068.4:c.5281G>A