ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825597481
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000435974
RCV000624902
RCV000763033
RCV000787277
RCV001078138
RCV001251039
RCV002227161
RCV003223404
RCV003333066
ClinVar Variation:
380972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Arg1348Gln
CA16607714
NM_001127222.2:c.4043G>A