ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093399
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000006280
RCV000713100
RCV001210018
RCV002512825
ClinVar Variation:
5917
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Pro1158Ser
CA253655
NM_000334.4:c.3472C>T