ClinGen Allele Registry
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Canonical Allele Identifier:
PA266119
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
79534
ClinVar RCV:
RCV000059522
RCV001171717
RCV001711166
RCV003588573
RCV003992175
ClinVar Variation:
68642
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Arg1646Cys
CA266117
NM_006920.6:c.4936C>T