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: PA2580225567

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1788411

ClinVar RCV Id: RCV002428455

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341559.1:p.Ile75Ser	CA352035923 NM_001354630.2:c.224T>G