ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826259576
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2313708
ClinVar RCV Id:
RCV002905094
RCV003753257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Thr1222Ile
CA349055889
NM_001202435.3:c.3665C>T