ClinGen Allele Registry
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Canonical Allele Identifier:
PA107979
Gene: NEFL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000015074
RCV000015075
RCV000057129
RCV000057131
RCV000234847
RCV000789663
RCV002426613
ClinVar Variation:
14030
66688
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Pro8Arg
CA217532
NM_006158.5:c.22_23delinsAG
CA217536
NM_006158.5:c.23C>G