ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827782484
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059475
RCV000188897
RCV000636409
RCV004542733
ClinVar Variation:
68598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Arg903Cys
CA273369
NM_001353957.2:c.2707C>T