×
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:
PA2827131356
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
628315
ClinVar RCV Id:
RCV000772772
RCV001241244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Ala297Val
CA366739704
NM_001322012.1:c.890C>T