ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741926843
Gene: NEFL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2907081
ClinVar RCV Id:
RCV003629783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Ala491Pro
CA174058309
NM_006158.5:c.1471G>C