ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827104117
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
525630
ClinVar RCV Id:
RCV000629751
RCV000765962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Leu104Phe
CA366743778
NM_001322004.2:c.310C>T