ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827119092
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186658
ClinVar RCV Id:
RCV000166288
RCV001063567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Ala520Asp
CA010390
NM_001322007.2:c.1559C>A