ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827749848
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68672
ClinVar RCV Id:
RCV000059552
RCV001569540
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Ile252Asn
CA285255
NM_001353948.2:c.755T>A