Canonical Allele Identifier: PA107979
Gene: NEFL HGNC NCBI

Linked Data

ClinVar Variation Id: 14030
ClinVar RCV Id: RCV000015075 RCV000015074 RCV000057129
ClinVar Variation Id: 66688
ClinVar RCV Id: RCV000057131 RCV000234847 RCV000789663 RCV002426613
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006149.2:p.Pro8Arg
CA217532
NM_006158.5:c.22_23delinsAG
CA217536
NM_006158.5:c.23C>G