ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416059
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
294716
ClinVar RCV Id:
RCV000376799
RCV000554452
RCV001463001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Glu1488Lys
CA083377
NM_000069.3:c.4462G>A