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: PA2827887322

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1742662

ClinVar RCV Id: RCV002335412

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341545.1:p.Ala154_Phe155delinsAsn	CA2580069598 NM_001354616.2:c.460_464delinsAA