ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827767582
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420883
ClinVar RCV Id:
RCV000482880
RCV003221302
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Thr1647Pro
CA16617285
NM_001353950.2:c.4939A>C