ClinGen Allele Registry
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Canonical Allele Identifier:
PA658668801
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000607192
RCV000680091
RCV000713090
RCV001080406
ClinVar Variation:
477399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Arg52Trp
CA8710269
NM_000334.4:c.154C>T