ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827787640
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000189077
RCV001253376
RCV001255357
RCV001857651
ClinVar Variation:
206933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Gly329Cys
CA317771
NM_001353960.2:c.985G>T