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: PA2827910853

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1520625

ClinVar RCV Id: RCV002046121 RCV002425435

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341558.1:p.Val683Leu	CA033554 NM_001354629.2:c.2047G>T CA352069137 NM_001354629.2:c.2047G>C