ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645415975
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
294742
ClinVar RCV Id:
RCV000329590
RCV000867936
RCV003221891
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Arg865His
CA079124
NM_000069.3:c.2594G>A