ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828474889
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194555
ClinVar RCV Id:
RCV000174944
RCV000197677
RCV000515237
RCV001265273
RCV001847809
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Arg853Gln
CA210022
NM_001371247.1:c.2558G>A