ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825359715
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000444205
RCV001252614
RCV001265495
RCV001848749
RCV003989530
ClinVar Variation:
379254
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035233.1:p.Arg1319Leu
CA16603920
NM_001040143.2:c.3956G>T