ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825009944
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000553225
RCV002289769
ClinVar Variation:
476276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000059.3:p.Gly230Ser
CA404348567
NM_000068.4:c.688G>A