ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645404124
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_001159435.1:p.Lys1313Thr
CA16617296
NM_001165963.4:c.3938A>C