ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416111
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
388826
ClinVar RCV Id:
RCV000440915
RCV001230161
RCV002522473
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Arg1702Gln
CA083723
NM_000069.3:c.5105G>A