ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093106
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5899
ClinVar RCV Id:
RCV000006259
RCV000206992
RCV000517055
RCV000662289
RCV001775065
RCV002288469
RCV002267600
RCV003483425
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Arg1448His
CA117836
NM_000334.4:c.4343G>A