ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916036538
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059549
RCV000494436
RCV000705871
ClinVar Variation:
68669
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Thr1909Ile
CA285249
NM_001353948.2:c.5726C>T