×
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:
PA2827103293
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
490107
ClinVar RCV Id:
RCV000580103
RCV003758855
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Thr30Ala
CA366744240
NM_001322004.2:c.88A>G