ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093033
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000006260
RCV000020271
RCV000516392
RCV001004616
RCV002496281
RCV003162214
RCV004545720
ClinVar Variation:
5900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Ala1156Thr
CA117837
NM_000334.4:c.3466G>A