ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA233078
Gene: NEFL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
155738
ClinVar RCV Id:
RCV000143808
RCV000789071
RCV001044771
RCV002381450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Pro440Leu
CA233076
NM_006158.5:c.1319C>T