ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580507027
Gene: NIPBL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2434362
ClinVar RCV Id:
RCV003133028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597677.2:p.His760Tyr
CA359500343
NM_133433.4:c.2278C>T