ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827788896
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190013
ClinVar RCV Id:
RCV000180969
RCV000442784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Ala1244Val
CA303550
NM_001353960.2:c.3731C>T