ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA303435
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
187718
ClinVar RCV:
RCV000180920
ClinVar Variation:
189966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Asp1692Val
CA303433
NM_006920.6:c.5075A>T