ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573094763
Gene: SCN2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001767965
ClinVar Variation:
1317399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066287.2:p.Ser1680Phe
CA349038055
NM_021007.3:c.5039C>T