ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826013712
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_001159436.1:p.Ile1628Met
CA256596
NM_001165964.3:c.4884C>G