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: PA2827905588

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 575660

ClinVar RCV Id: RCV000697943 RCV002422545 RCV003999674

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341556.1:p.Val2Leu	CA352052096 NM_001354627.2:c.4G>C