ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825359447
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000551875
RCV001556515
RCV002265794
RCV002456120
ClinVar Variation:
464907
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035233.1:p.Arg1177Trp
CA1940130
NM_001040143.2:c.3529C>T