ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449728
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429650
ClinVar RCV Id:
RCV000493640
RCV000692582
RCV002318598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Arg2157His
CA9239355
NM_001127221.2:c.6470G>A