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: PA2826041802

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 90444

ClinVar RCV Id: RCV000486267 RCV000574268 RCV000684787 RCV003325180 RCV003997139

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001161091.1:p.Pro68Ser	CA013121 NM_001167619.3:c.202C>T