Allele Registry

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.

Canonical Allele Identifier: PA2826040135

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1485460

ClinVar RCV Id: RCV002030410 RCV003303572

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001161090.1:p.Glu117Gln	CA352052080 NM_001167618.3:c.349G>C