ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827781706
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206933
ClinVar RCV Id:
RCV000189077
RCV001255357
RCV001857651
RCV001253376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Gly329Cys
CA317771
NM_001353957.2:c.985G>T