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: PA2825106770

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1768795

ClinVar RCV Id: RCV002383012 RCV003988004

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000240.1:p.Asp428Glu	CA352053092 NM_000249.4:c.1284T>A CA352053102 NM_000249.4:c.1284T>G