ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499231258
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1016699
ClinVar RCV Id:
RCV001315741
RCV002486237
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Ala552Thr
CA8709762
NM_000334.4:c.1654G>A