ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825598887
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001368839
RCV001704385
ClinVar Variation:
387200
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Pro2221Leu
CA9239296
NM_001127222.2:c.6662C>T