ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828475541
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1008389
ClinVar RCV Id:
RCV001305718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Met1241Thr
CA349027738
NM_001371247.1:c.3722T>C