ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827788491
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000180811
ClinVar Variation:
189858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Met931Arg
CA303122
NM_001353960.2:c.2792T>G