ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499287641
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1074301
ClinVar RCV Id:
RCV001387541
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066287.2:p.Ile1596Ser
CA349036859
NM_021007.3:c.4787T>G