ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645403170
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000487912
RCV001448434
ClinVar Variation:
425226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Tyr1014Phe
CA1943013
NM_006920.6:c.3041A>T