ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829676308
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000482880
RCV003221302
ClinVar Variation:
420883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Thr1647Pro
CA16617285
NM_006920.6:c.4939A>C