ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093144
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000006274
RCV000206926
RCV003482224
ClinVar Variation:
5911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Arg669His
CA253651
NM_000334.4:c.2006G>A