Canonical Allele Identifier: PA916027866
Gene: NUP107 HGNC NCBI

Linked Data

ClinVar Variation Id: 183304
ClinVar RCV Id: RCV000162125 RCV000721164 RCV001093320
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317121.1:p.Met72Ile
CA249928
NM_001330192.2:c.216G>A
CA385696396
NM_001330192.2:c.216G>T
CA385696397
NM_001330192.2:c.216G>C