ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827130408
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000466147
RCV001016024
RCV002481461
ClinVar Variation:
411040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308940.1:p.Asn551_Ter552insGlyPro
CA16612251
NM_001322011.2:c.1654T>G