ClinGen Allele Registry
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Canonical Allele Identifier:
PA093075
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000043510
RCV000517960
RCV000692011
RCV001174896
ClinVar Variation:
21155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Arg1132Gln
CA263213
NM_000334.4:c.3395G>A