ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827772048
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059544
RCV000180879
RCV001854247
ClinVar Variation:
68664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Met1841Thr
CA266129
NM_001353951.2:c.5522T>C