ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827788488
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000059485
RCV000817420
RCV002247464
ClinVar Variation:
68608
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Met931Val
CA285108
NM_001353960.2:c.2791A>G