ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827776528
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68598
ClinVar RCV Id:
RCV000059475
RCV000188897
RCV000636409
RCV004542733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Arg919Cys
CA273369
NM_001353954.2:c.2755C>T