ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093183
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000006279
RCV000206986
RCV003493408
ClinVar Variation:
5916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Arg672Ser
CA253654
NM_000334.4:c.2014C>A