ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA217581
Gene: NEFL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000057148
RCV001836726
ClinVar Variation:
66698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Leu268Pro
CA217579
NM_006158.5:c.803T>C