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: PA2827890330

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 90076

ClinVar RCV Id: RCV000162502 RCV000627729 RCV002288571 RCV003997124

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341546.1:p.Val479Gly	CA008948 NM_001354617.2:c.1436T>G