ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827119037
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
646506
ClinVar RCV Id:
RCV000800803
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Asn506del
CA915944863
NM_001322007.2:c.1518_1520del