ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827120500
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
484272
ClinVar RCV Id:
RCV000571604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Ala520Gly
CA366739464
NM_001322008.2:c.1559C>G