×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827120570
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2786328
ClinVar RCV Id:
RCV003760014
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Asp598Asn
CA366737978
NM_001322008.2:c.1792G>A