ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA301200
Gene: CACNA1C
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000475281
RCV000622425
RCV001812147
RCV002354418
RCV002478532
ClinVar Variation:
190628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000710.5:p.Cys1992Phe
CA301196
NM_000719.7:c.5975G>T