ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264824
Gene: CACNA1C
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000710.5:p.Gly490Arg
NM_000719.7:c.1468G>A
NM_000719.7:c.1468G>C