ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645404593
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
69406
ClinVar RCV Id:
RCV000209885
RCV000494091
RCV000702992
RCV004528267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Ser1516Leu
CA357173
NM_001165963.4:c.4547C>T