ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827789790
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000176636
RCV001852177
ClinVar Variation:
195946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Asn1750Asp
CA242664
NM_001353960.2:c.5248A>G