ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139687268
Gene: SRP54
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430852
ClinVar RCV Id:
RCV000999506
RCV000577900
RCV000731602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139754.1:p.Thr68del
CA658658253
NM_001146282.2:c.202_204del