ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827786579
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000013746
RCV000059433
RCV001385324
RCV003992151
ClinVar Variation:
12886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Ile1628Met
CA256596
NM_001353958.2:c.4884C>G