ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825595248
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
434561
ClinVar RCV Id:
RCV000501045
RCV002051861
RCV001042082
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Gly347Ser
CA305541029
NM_001127222.2:c.1039G>A