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: PA916038847

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 230138

ClinVar RCV Id: RCV000221003 RCV000688104 RCV003235139 RCV003997806

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341559.1:p.Met359Thr	CA027081 NM_001354630.2:c.1076T>C