This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: NIPBL HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000499536.1:p.Gln749His
CA359500026
ENST00000652901.1:c.2247A>C
CA359500042
ENST00000652901.1:c.2247A>T