ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825597875
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000177634
RCV001852195
RCV002298504
ClinVar Variation:
196769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Arg1672Cys
CA244130
NM_001127222.2:c.5014C>T