ClinGen Allele Registry
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Canonical Allele Identifier:
PA645415984
Gene: CACNA1S
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
364720
ClinVar RCV:
RCV000437112
RCV000534363
RCV002480310
ClinVar Variation:
387090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Val974Met
CA079417
NM_000069.3:c.2920G>A