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: PA2827897658

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 187221

ClinVar RCV Id: RCV000166929 RCV000481402 RCV000805743 RCV003491912

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341551.1:p.Tyr38Ser	CA004428 NM_001354622.2:c.113A>C