ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827753199
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488378
ClinVar RCV Id:
RCV000578191
RCV003588648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Ile1347Asn
CA349050737
NM_001353948.2:c.4040T>A