ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827790092
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000723619
RCV000764282
RCV001080157
RCV001281471
RCV002313760
RCV004542757
ClinVar Variation:
93661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Pro1955His
CA221611
NM_001353960.2:c.5864C>A