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: PA2827908277

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 633306

ClinVar RCV Id: RCV000781533 RCV000793117 RCV001188243 RCV004001533

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001341557.1:p.Tyr690His