ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827789082
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000493143
RCV001851360
ClinVar Variation:
430089
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Asn1349Thr
CA349050334
NM_001353960.2:c.4046A>C