×
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:
PA2826460753
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1788687
ClinVar RCV Id:
RCV002443796
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245202.1:p.Arg514Met
CA352069892
NM_001258273.2:c.1541G>T