ClinGen Allele Registry
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Canonical Allele Identifier:
PA916036918
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059522
RCV001171717
RCV001711166
RCV003588573
RCV003992175
ClinVar Variation:
68642
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Arg843Cys
CA266117
NM_001353961.2:c.2527C>T