ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449484
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420945
ClinVar RCV Id:
RCV000486354
RCV000679938
RCV002227167
RCV003152605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Pro1353Leu
CA16620786
NM_001127221.2:c.4058C>T