ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA301201
Gene: CACNA1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190628
ClinVar RCV Id:
RCV000475281
RCV000622425
RCV001812147
RCV002354418
RCV002478532
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123312.1:p.Cys1992Phe
CA301196
NM_001129840.2:c.5975G>T