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