ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827769778
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190017
ClinVar RCV Id:
RCV000180973
RCV003228910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Ala342Ser
CA303563
NM_001353951.2:c.1024G>T