ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645402880
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000497813
RCV003588638
ClinVar Variation:
432714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Gly343Ser
CA349071541
NM_006920.6:c.1027G>A