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: PA2826040475

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1771343

ClinVar RCV Id: RCV002381221 RCV004007310

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001161090.1:p.Lys220Asn	CA72796432 NM_001167618.3:c.660G>C CA72796434 NM_001167618.3:c.660G>T