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: PA916038688

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 525788

ClinVar RCV Id: RCV000630088

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341559.1:p.Asp72Tyr	CA352035761 NM_001354630.2:c.214G>T