ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499272792
Gene: NEFL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001319668
ClinVar Variation:
1020136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Glu163Lys
CA370622277
NM_006158.5:c.487G>A