ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA217546
Gene: NEFL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000015078
RCV000057135
ClinVar Variation:
14033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Leu94Pro
CA217544
NM_006158.5:c.281T>C