ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093428
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5904
ClinVar RCV Id:
RCV000006266
RCV000414134
RCV000540455
RCV000763019
RCV002267602
RCV003455986
RCV004532297
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Thr1313Met
CA117841
NM_000334.4:c.3938C>T