ClinGen Allele Registry
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Canonical Allele Identifier:
PA658668869
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000538078
RCV001267294
RCV001335257
ClinVar Variation:
477408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Asp932Asn
CA8709499
NM_000334.4:c.2794G>A