ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825242464
Gene: PUS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
806966
ClinVar RCV Id:
RCV000995007
RCV002549889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002019.1:p.Ala198Thr
CA6884219
NM_001002019.3:c.592G>A