ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658662110
Gene: CACNA1S
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000535113
RCV004805680
ClinVar Variation:
474005
3386264
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000060.2:p.Asn1850Lys
CA083898
NM_000069.3:c.5550C>A
CA083899
NM_000069.3:c.5550C>G