ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827772544
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
982639
ClinVar RCV Id:
RCV001262229
RCV001775164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Gly210Asp
CA349074304
NM_001353952.2:c.629G>A