ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827764074
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374331
ClinVar RCV Id:
RCV000415450
RCV001584109
RCV001861452
RCV002402109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Ser570Asn
CA16043652
NM_001353950.2:c.1709G>A