ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093318
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5923
ClinVar RCV Id:
RCV000006286
RCV000020266
RCV000485864
RCV002267605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Ile693Thr
CA117855
NM_000334.4:c.2078T>C