ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827782931
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000474433
RCV002222515
RCV003993970
ClinVar Variation:
408940
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Met1223Thr
CA1942888
NM_001353957.2:c.3668T>C