ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254488
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
23547
ClinVar RCV:
RCV000009033
ClinVar Variation:
8508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Phe1406Cys
CA254482
NM_023035.3:c.4217T>G