ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827788571
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
413560
ClinVar RCV:
RCV000487912
RCV001448434
ClinVar Variation:
425226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Tyr996Phe
CA1943013
NM_001353960.2:c.2987A>T