ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093118
Gene: SCN4A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000713109
RCV002532949
ClinVar Variation:
586518
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Arg1448Leu
CA400616189
NM_000334.4:c.4343G>T