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: PA2827895398

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773579

ClinVar RCV Id: RCV003584436

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341549.1:p.Pro481Leu	CA352064167 NM_001354620.2:c.1442C>T