ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916070362
Gene: CACNA1A
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_075461.2:p.Gln1717Lys
NM_023035.3:c.5149C>A