×
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:
PA2827123844
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418778
ClinVar RCV Id:
RCV000483592
RCV001851147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Gln498Glu
CA16618497
NM_001322008.2:c.1492C>G