ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828472544
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
436661
ClinVar RCV Id:
RCV000501194
RCV001865623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358175.1:p.Gln1479Lys
CA349034351
NM_001371246.1:c.4435C>A