ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827777222
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059412
RCV002513780
ClinVar Variation:
68538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Cys1384Gly
CA284943
NM_001353954.2:c.4150T>G