ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA317928
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206987
ClinVar RCV Id:
RCV000189136
RCV000302248
RCV000463410
RCV000725887
RCV000655981
RCV001329197
RCV003224211
RCV003985294
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035232.1:p.Glu1153Lys
CA317927
NM_001040142.2:c.3457G>A