Allele Registry

Canonical Allele Identifier: PA2499270013

Gene: NUP214 HGNC NCBI

ClinVar Allele:

1264870

ClinVar RCV:

RCV001678863

RCV004542079

ClinVar Variation:

1273040

HGVS (amino-acid)	Matching Registered Transcripts
NP_005076.3:p.Pro574Ser	CA5289084 NM_005085.4:c.1720C>T