ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827787473
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059455
RCV000188842
RCV000636408
ClinVar Variation:
68579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Ile227Ser
CA285045
NM_001353960.2:c.680T>G