ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827783450
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1465360
ClinVar RCV Id:
RCV001990261
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Ile1523Met
CA349072221
NM_001353957.2:c.4569C>G