ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA217567
Gene: NEFL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000034138
RCV000057143
ClinVar Variation:
41238
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Pro22Thr
CA217565
NM_006158.5:c.64C>A