ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827774681
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68643
ClinVar RCV Id:
RCV000059523
RCV000529623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Thr1647Met
CA285192
NM_001353952.2:c.4940C>T