ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829676467
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000479372
ClinVar Variation:
420677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Pro1748Ser
CA16617281
NM_006920.6:c.5242C>T