ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139763012
Gene: PUS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
989542
ClinVar RCV Id:
RCV001277398
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079491.2:p.His246Arg
CA387299068
NM_025215.6:c.737A>G