ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826011824
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189960
ClinVar RCV Id:
RCV000180914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Ala342Val
CA303409
NM_001165964.3:c.1025C>T