ClinGen Allele Registry
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Canonical Allele Identifier:
PA658803875
Gene: CACNA1S
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
515476
ClinVar RCV:
RCV000651229
RCV002477451
ClinVar Variation:
541043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Ala450Thr
CA078156
NM_000069.3:c.1348G>A