ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA913193081
Gene: HNF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
594349
ClinVar RCV Id:
RCV000729612
RCV002464301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000449.1:p.Gly144Ser
CA8519075
NM_000458.4:c.430G>A