ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA317110
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
201418
ClinVar RCV:
RCV001200251
RCV001318625
ClinVar Variation:
206732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Ile1944Met
CA317108
NM_006920.6:c.5832A>G