ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645415910
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
279727
ClinVar RCV Id:
RCV000277233
RCV000326557
RCV000415659
RCV000656816
RCV000560360
RCV002519032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Arg498Leu
CA078268
NM_000069.3:c.1493G>T