ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580128624
Gene: NEXMIF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1918907
ClinVar RCV Id:
RCV002617378
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001008537.1:p.Arg1217Cys
CA331301713
NM_001008537.3:c.3649C>T