Allele Registry

Canonical Allele Identifier: PA172670

Gene: NIPBL HGNC NCBI

ClinVar RCV:

RCV000146552

RCV001157505

ClinVar Variation:

99925

HGVS (amino-acid)	Matching Registered Transcripts
NP_056199.2:p.Asp864Glu	CA172669 NM_015384.5:c.2592T>A CA359502920 NM_015384.5:c.2592T>G