ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA285128
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059492
RCV000433130
RCV001854244
ClinVar Variation:
68615
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Thr112Ile
CA285126
NM_006920.6:c.335C>T