ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139741993
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
976279
ClinVar RCV Id:
RCV001253523
RCV003989658
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066287.2:p.Phe207Ser
CA349017330
NM_021007.3:c.620T>C