ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3074801964
Gene: NEFL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Leu336Arg
CA370621148
NM_006158.5:c.1007T>G