ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA350733
Gene: NEFL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220372
ClinVar RCV Id:
RCV000206730
RCV000518282
RCV002381708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Arg323Pro
CA350731
NM_006158.5:c.968G>C