ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107142
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059458
RCV000585038
RCV001453714
RCV002415520
ClinVar Variation:
68582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Arg27Thr
CA266095
NM_001165963.4:c.80G>C