ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA217509
Gene: NEFL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66678
ClinVar RCV Id:
RCV000057120
RCV000789605
RCV001854170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Ala498Thr
CA217507
NM_006158.5:c.1492G>A