ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826046268
Gene: CACNA1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
518751
ClinVar RCV Id:
RCV000620862
RCV001213243
RCV002261133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161096.2:p.Ala1317Thr
CA6389433
NM_001167624.3:c.3949G>A