ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827790409
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000493354
RCV001132320
RCV001132321
RCV001227551
ClinVar Variation:
429403
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340890.1:p.Val202Met
CA59787454
NM_001353961.2:c.604G>A