ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827752974
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059502
RCV001385513
ClinVar Variation:
68624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Leu1287Pro
CA285150
NM_001353948.2:c.3860T>C