ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827789914
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68664
ClinVar RCV Id:
RCV000059544
RCV000180879
RCV001854247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Met1823Thr
CA266129
NM_001353960.2:c.5468T>C