ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827756468
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059552
RCV001569540
ClinVar Variation:
68672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Ile252Asn
CA285255
NM_001353949.2:c.755T>A