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: PA2825105957

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2769231

ClinVar RCV Id: RCV003594539

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000240.1:p.Asp74Tyr	CA352035835 NM_000249.4:c.220G>T