ClinGen Allele Registry
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Canonical Allele Identifier:
PA317527
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000188972
RCV000731424
RCV001393461
ClinVar Variation:
206845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Arg1564His
CA317525
NM_006920.6:c.4691G>A