ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827752869
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
99549
ClinVar RCV:
RCV000079577
RCV000701047
RCV002345392
RCV003155068
ClinVar Variation:
93645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Phe1259Ser
CA285448
NM_001353948.2:c.3776T>C