ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827785988
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000483132
ClinVar Variation:
421599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Lys1285Thr
CA16617296
NM_001353958.2:c.3854A>C