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: PA2827893760

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1786588

ClinVar RCV Id: RCV002430553

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341548.1:p.Trp473Gly	CA352069080 NM_001354619.2:c.1417T>G