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: PA2827888618

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 90339

ClinVar RCV Id: RCV000075830 RCV000573119 RCV001210008 RCV001354491 RCV001804824 RCV003466961

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341546.1:p.Gly3Asp	CA011836 NM_001354617.2:c.8G>A