ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA358342
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225282
ClinVar RCV Id:
RCV000210902
RCV000320288
RCV000493592
RCV001079169
RCV003517149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Asp998Asn
CA079474
NM_000069.3:c.2992G>A