ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827787259
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059474
RCV000819332
RCV003157390
ClinVar Variation:
68597
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Ile91Thr
CA285081
NM_001353960.2:c.272T>C