ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA301312
Gene: CACNA1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190642
ClinVar RCV Id:
RCV000170780
RCV000232889
RCV002287377
RCV002250585
RCV002399602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000710.5:p.Arg518Cys
CA301308
NM_000719.7:c.1552C>T