ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645415970
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
254816
ClinVar RCV Id:
RCV000247402
RCV000335319
RCV000530662
RCV001081542
RCV003454733
RCV003454734
RCV003458368
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Met827Thr
CA079010
NM_000069.3:c.2480T>C