ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658670303
Gene: NIPBL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450053
ClinVar RCV Id:
RCV000520338
RCV000678375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597677.2:p.Lys862Glu
CA359502819
NM_133433.4:c.2584A>G