ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499234799
Gene: NEXMIF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1047354
ClinVar RCV Id:
RCV001352055
RCV001836990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001008537.1:p.Asp229Tyr
CA331301807
NM_001008537.3:c.685G>T