ClinGen Allele Registry
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Canonical Allele Identifier:
PA284945
Gene: SCN1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
79430
ClinVar RCV:
RCV000059412
RCV002513780
ClinVar Variation:
68538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Cys1385Gly
CA284943
NM_006920.6:c.4153T>G