ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580335252
Gene: NEFL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2097210
ClinVar RCV Id:
RCV003006294
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Leu376Pro
CA370620856
NM_006158.5:c.1127T>C