ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827776533
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
264045
ClinVar RCV:
RCV000302405
RCV001318445
RCV002436095
ClinVar Variation:
280527
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.His921Tyr
CA10602812
NM_001353954.2:c.2761C>T