ClinGen Allele Registry
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Canonical Allele Identifier:
PA645449730
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000254914
RCV001318521
ClinVar Variation:
265065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Arg2159His
CA9239352
NM_001127221.2:c.6476G>A