ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA317187
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206755
ClinVar RCV Id:
RCV000188856
RCV000677680
RCV000986909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Gly329Val
CA317185
NM_001165963.4:c.986G>T