ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825013716
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000344424
RCV001040372
ClinVar Variation:
282735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000059.3:p.Gly2092Val
CA9239420
NM_000068.4:c.6275G>T