ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827786062
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_001340887.1:p.Cys1326Phe
CA16610188
NM_001353958.2:c.3977G>T