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: PA2827887933

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_001341545.1:p.Glu337Asp	CA352064152 NM_001354616.2:c.1011G>C CA352064153 NM_001354616.2:c.1011G>T