ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828472723
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1994107
ClinVar RCV Id:
RCV002806613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358175.1:p.Glu1551Ala
CA349036375
NM_001371246.1:c.4652A>C