ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916036402
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93639
ClinVar RCV Id:
RCV000255810
RCV000546041
RCV000781835
RCV002247477
RCV002274894
RCV003992180
RCV004537326
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Arg859His
CA266833
NM_001353948.2:c.2576G>A