ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416040
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
294725
ClinVar RCV Id:
RCV000337244
RCV001364039
RCV002508209
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Arg1302Trp
CA082928
NM_000069.3:c.3904C>T