ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA217567
Gene: NEFL
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_006149.2:p.Pro22Thr
NM_006158.5:c.64C>A