ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826104988
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
192090
ClinVar RCV:
RCV000175409
RCV000210670
RCV000432960
RCV000660566
RCV001080527
RCV001251922
RCV003985285
ClinVar Variation:
194928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167551.1:p.Glu1015Lys
CA241161
NM_001174080.2:c.3043G>A