ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827786822
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059444
RCV001854242
ClinVar Variation:
68569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Met1752Thr
CA285018
NM_001353958.2:c.5255T>C