ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA217516
Gene: NEFL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000015076
RCV000057123
RCV000481083
RCV001080241
ClinVar Variation:
66681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Glu527del
CA217514
NM_006158.5:c.1579_1581del