ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827786618
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189897
ClinVar RCV Id:
RCV000180849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Asn1644His
CA303241
NM_001353958.2:c.4930A>C