ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826260433
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93656
ClinVar RCV Id:
RCV000079588
RCV001823112
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189364.1:p.Met1714Thr
CA266846
NM_001202435.3:c.5141T>C