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: PA2826039030

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495760

ClinVar RCV Id: RCV000589064 RCV002295306

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001161089.1:p.Glu480Asp	CA352064152 NM_001167617.3:c.1440G>C CA352064153 NM_001167617.3:c.1440G>T