ClinGen Allele Registry
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Canonical Allele Identifier:
PA645415850
Gene: CACNA1S
HGNC
NCBI
Linked Data
ClinVar Variation Id:
294767
ClinVar RCV Id:
RCV000484498
RCV000263862
RCV000697995
RCV003517182
RCV003165797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Ser451Leu
CA078157
NM_000069.3:c.1352C>T