ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645490246
Gene: NEFL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287020
ClinVar RCV Id:
RCV000319997
RCV000789666
RCV001067080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006149.2:p.Pro8Thr
CA10605648
NM_006158.5:c.22C>A