ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829821636
Gene: NIPBL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282380
ClinVar RCV Id:
RCV000324942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056199.2:p.Thr724Ile
CA10604161
NM_015384.5:c.2171C>T