ClinGen Allele Registry
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Canonical Allele Identifier:
PA658661968
Gene: CACNA1S
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
440427
ClinVar RCV:
RCV000517318
RCV001098317
RCV001321210
RCV003517214
ClinVar Variation:
446963
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Leu164Phe
CA083622
NM_000069.3:c.490C>T