ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826011823
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000180973
RCV003228910
ClinVar Variation:
190017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Ala342Ser
CA303563
NM_001165964.3:c.1024G>T