ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828472857
Gene: SCN2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000490238
ClinVar Variation:
426288
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358175.1:p.Phe1619Ser
CA349037607
NM_001371246.1:c.4856T>C