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: PA2826462592

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1788685

ClinVar RCV Id: RCV002443794

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245203.1:p.Arg514Thr	CA352069894 NM_001258274.3:c.1541G>C