Canonical Allele Identifier: PA2741926843
Gene: NEFL HGNC NCBI
ClinVar RCV:
RCV003629783
ClinVar Variation:
2907081
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006149.2:p.Ala491Pro
CA174058309
NM_006158.5:c.1471G>C