ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093094
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5898
ClinVar RCV Id:
RCV000006258
RCV000206951
RCV000255921
RCV001813736
RCV003989102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Arg1448Cys
CA117835
NM_000334.4:c.4342C>T