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: PA2827909933

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 819071

ClinVar RCV Id: RCV001011299

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341558.1:p.Pro431Arg	CA352054082 NM_001354629.2:c.1292C>G