ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA344247
Gene: NEFL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000034135
ClinVar Variation:
41235
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Gln334Pro
CA344245
NM_006158.5:c.1001A>C