ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827777646
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000013742
RCV000059521
RCV000484119
RCV001040793
RCV001192959
ClinVar Variation:
12882
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Arg1636His
CA256584
NM_001353954.2:c.4907G>A