ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827136308
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2586336
ClinVar RCV Id:
RCV003368285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Ala602Val
CA366739761
NM_001322014.1:c.1805C>T