ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916020394
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
402949
ClinVar RCV Id:
RCV000455694
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Ala180Val
CA16609762
NM_001306179.2:c.539C>T