ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826048477
Gene: CACNA1C
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000170826
RCV000463099
RCV002345574
RCV002492701
RCV003488417
ClinVar Variation:
190688
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161097.1:p.Arg1769Cys
CA301647
NM_001167625.2:c.5305C>T