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: PA2827910329

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 41635

ClinVar RCV Id: RCV000034540 RCV000075343 RCV000115466 RCV000212543 RCV000987183 RCV001080084 RCV003934879

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341558.1:p.Pro548Leu	CA006663 NM_001354629.2:c.1643C>T