ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827789803
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059446
RCV000189000
RCV001207693
ClinVar Variation:
68571
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Ala1754Val
CA285024
NM_001353960.2:c.5261C>T