×
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:
PA916038730
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
90137
ClinVar RCV Id:
RCV000075623
RCV000486320
RCV000502831
RCV001211883
RCV003162483
RCV003451125
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341559.1:p.Gly101Ser
CA009611
NM_001354630.2:c.301G>A