ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741926827
Gene: NEFL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2804039
ClinVar RCV Id:
RCV003630196
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Tyr389Ser
CA370620765
NM_006158.5:c.1166A>C