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: PA2825106708

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1743816

ClinVar RCV Id: RCV002340504

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000240.1:p.Phe396Tyr	CA352052519 NM_000249.4:c.1187T>A