ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829675846
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000578191
RCV003588648
ClinVar Variation:
488378
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Ile1336Asn
CA349050737
NM_006920.6:c.4007T>A