ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827776557
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059481
RCV000118240
RCV000189085
RCV000636276
ClinVar Variation:
68604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Arg934Cys
CA269785
NM_001353954.2:c.2800C>T