ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA101905
Gene: UROS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3751
ClinVar RCV Id:
RCV000003949
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000366.1:p.Pro53Leu
CA252864
NM_000375.3:c.158C>T