ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829675995
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000413422
RCV000692374
ClinVar Variation:
372966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Ala1430Thr
CA16042433
NM_006920.6:c.4288G>A