ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826011948
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000188865
RCV001134812
RCV001134813
RCV001320100
RCV001775093
ClinVar Variation:
206762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Thr398Met
CA317213
NM_001165964.3:c.1193C>T