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: PA2827889175

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 489887

ClinVar RCV Id: RCV000580248 RCV000705905 RCV001591345 RCV004001249

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341546.1:p.Gln157Glu	CA72796179 NM_001354617.2:c.469C>G