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: PA2827909070

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 483584

ClinVar RCV Id: RCV000575470 RCV000804764

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341558.1:p.Ile186Thr	CA352042775 NM_001354629.2:c.557T>C