ClinGen Allele Registry
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Canonical Allele Identifier:
PA916070130
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
533152
ClinVar RCV:
RCV000653321
ClinVar Variation:
542820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Glu1267Lys
CA404340598
NM_023035.3:c.3799G>A