ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825247195
Gene: CACNA1C
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000506792
RCV001206926
RCV003456406
ClinVar Variation:
439454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000710.5:p.Ala2007Thr
CA6390052
NM_000719.7:c.6019G>A