ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827785221
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189929
ClinVar RCV Id:
RCV000180882
RCV001344647
RCV003482238
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Pro740Leu
CA303333
NM_001353958.2:c.2219C>T