ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827760137
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000188945
RCV003753104
ClinVar Variation:
206822
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Ala1418Thr
CA317442
NM_001353949.2:c.4252G>A