ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827773492
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000180876
RCV002515209
ClinVar Variation:
189924
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Leu886Ser
CA303322
NM_001353952.2:c.2657T>C