ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093446
Gene: SCN4A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000006272
RCV000396578
RCV000509130
RCV000654659
ClinVar Variation:
5909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Val1293Ile
CA117846
NM_000334.4:c.3877G>A