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: PA2827909066

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2452038

ClinVar RCV Id: RCV003172132

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341558.1:p.Ser185_Ile186delinsPheVal	CA2580069438 NM_001354629.2:c.554_556delinsTCG