ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828473912
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464920
ClinVar RCV Id:
RCV000533201
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Ser229Ala
CA349017594
NM_001371247.1:c.685T>G