ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827132631
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
943931
ClinVar RCV Id:
RCV001214220
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Val118Ile
CA366743185
NM_001322013.1:c.352G>A