ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA217503
Gene: NEFL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66676
ClinVar RCV Id:
RCV000057118
RCV000311183
RCV000444012
RCV001082150
RCV001173044
RCV002390203
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Asp468Asn
CA217501
NM_006158.5:c.1402G>A