ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827781145
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000636278
RCV001089689
RCV001706692
ClinVar Variation:
530419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Ala1926Val
CA59797796
NM_001353955.2:c.5777C>T