ClinGen Allele Registry
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Canonical Allele Identifier:
PA221613
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
99565
ClinVar RCV:
RCV000723619
RCV000764282
RCV001080157
RCV001281471
RCV002313760
RCV004542757
ClinVar Variation:
93661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Pro1973His
CA221611
NM_006920.6:c.5918C>A