ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826260345
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
29883
ClinVar RCV Id:
RCV000022764
RCV001379443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Ala1669Glu
CA281748
NM_001202435.3:c.5006C>A