ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827775758
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059461
RCV001390614
RCV002381374
ClinVar Variation:
68585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Gly343Asp
CA285060
NM_001353954.2:c.1028G>A