ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826105197
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000726478
RCV001088856
RCV002321939
ClinVar Variation:
265064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167551.1:p.Ala1120Thr
CA9240354
NM_001174080.2:c.3358G>A