ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827780283
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000059417
RCV001267274
ClinVar Variation:
68543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Ala1429Pro
CA284958
NM_001353955.2:c.4285G>C