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: PA2826457889

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_001245200.1:p.Ala395_Phe396delinsAsn	CA2580069598 NM_001258271.2:c.1183_1187delinsAA