ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA292534
Gene: NFU1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
138516
ClinVar RCV Id:
RCV000127198
RCV000294034
RCV000676267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002755.1:p.Met25Lys
CA292533
NM_001002755.4:c.74T>A