ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827789793
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000489093
ClinVar Variation:
427080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Met1751Val
CA349068113
NM_001353960.2:c.5251A>G