ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829821682
Gene: NIPBL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002861339
ClinVar Variation:
2014126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056199.2:p.Ser809Phe
CA359501197
NM_015384.5:c.2426C>T