ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA355066
Gene: NEFL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220209
ClinVar RCV Id:
RCV000235949
RCV000764772
RCV001081473
RCV001657993
RCV002390546
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Gln537Arg
CA348057
NM_006158.5:c.1610A>G