ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA285047
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68579
ClinVar RCV Id:
RCV000059455
RCV000636408
RCV000188842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Ile227Ser
CA285045
NM_006920.6:c.680T>G