ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499289555
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001568320
ClinVar Variation:
1202591
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Ile219Val
CA404348654
NM_023035.3:c.655A>G