ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827771169
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000474675
ClinVar Variation:
408922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Cys1343Phe
CA16610188
NM_001353951.2:c.4028G>T