ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139758688
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
850447
ClinVar RCV Id:
RCV001054617
RCV001772269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Arg947Cys
CA9240464
NM_023035.3:c.2839C>T