ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827780953
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003752662
ClinVar Variation:
2864086
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Trp1800Leu
CA349067586
NM_001353955.2:c.5399G>T