ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827788805
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1004237
ClinVar RCV Id:
RCV001300911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Glu1192Gly
CA349055914
NM_001353960.2:c.3575A>G