ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645406985
Gene: SCN2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000422511
ClinVar Variation:
391613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066287.2:p.Asp343Val
CA16603896
NM_021007.3:c.1028A>T