ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825359036
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
130219
ClinVar RCV Id:
RCV000118255
RCV000427650
RCV000330573
RCV001083230
RCV002490810
RCV002312494
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035233.1:p.Lys908Arg
CA155058
NM_001040143.2:c.2723A>G