ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645490446
Gene: NEFL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000535984
RCV000762503
RCV000764773
ClinVar Variation:
234913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Leu329Pro
CA10577361
NM_006158.5:c.986T>C