ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825595572
Gene: CACNA1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059291
RCV001092223
RCV002513778
RCV003398649
ClinVar Variation:
68421
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120694.1:p.Thr500Met
CA266034
NM_001127222.2:c.1499C>T