ClinGen Allele Registry
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Canonical Allele Identifier:
PA916070183
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000317331
RCV000802158
ClinVar Variation:
280762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Cys1372Arg
CA10603345
NM_023035.3:c.4114T>C