ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827768761
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000524577
RCV000579160
ClinVar Variation:
461262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Met1Thr