ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA303513
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
187736
ClinVar RCV:
RCV000180954
ClinVar Variation:
189998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Val1578Gly
CA303511
NM_006920.6:c.4733T>G