ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108408
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68669
ClinVar RCV Id:
RCV000059549
RCV000494436
RCV000705871
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Thr1909Ile
CA285249
NM_001165963.4:c.5726C>T