ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891855384
Gene: NEFL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
568237
ClinVar RCV Id:
RCV000688530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Glu385Val
CA370620789
NM_006158.5:c.1154A>T