ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827781169
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2959868
ClinVar RCV Id:
RCV003812043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Asp1946Asn
CA349063399
NM_001353955.2:c.5836G>A