ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA217557
Gene: NEFL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000034137
RCV000057139
RCV001364663
ClinVar Variation:
41237
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Ala149Val
CA217555
NM_006158.5:c.446C>T