ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645415942
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
294760
ClinVar RCV Id:
RCV000381485
RCV001850519
RCV003417940
RCV003995801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Ala560Thr
CA078518
NM_000069.3:c.1678G>A