ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658814259
Gene: NEFL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
533509
ClinVar RCV Id:
RCV000640658
RCV001090303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Leu392His
CA370620729
NM_006158.5:c.1175T>A