ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111358
Gene: HNF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193102
ClinVar RCV Id:
RCV000173138
RCV000369522
RCV000993276
RCV001328309
RCV003316074
RCV003947459
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000449.1:p.Gly76Cys
CA200314
NM_000458.4:c.226G>T