ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827775566
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68578
ClinVar RCV Id:
RCV000059454
RCV000188843
RCV000558296
RCV000763460
RCV001003956
RCV001420531
RCV002470755
RCV003764743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Thr226Met
CA285042
NM_001353954.2:c.677C>T