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: PA2827904606

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 489887

ClinVar RCV Id: RCV000580248 RCV000705905 RCV001591345 RCV004001249

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341556.1:p.Gln40Glu	CA72796179 NM_001354627.2:c.118C>G