ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916025220
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000226233
RCV000772142
RCV001535628
RCV003998795
ClinVar Variation:
237924
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Pro86Leu
CA10582522
NM_001322010.2:c.257C>T