×
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:
PA2827907507
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479700
ClinVar RCV Id:
RCV001239916
RCV000575071
RCV003238777
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341557.1:p.Asp428Asn
CA72796336
NM_001354628.2:c.1282G>A