ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827788987
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
571695
ClinVar RCV Id:
RCV000692909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Phe1301Ser
CA349052909
NM_001353960.2:c.3902T>C