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: PA2827892152

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 820798

ClinVar RCV Id: RCV001014593 RCV001860768 RCV004004534

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341547.1:p.Trp473Arg	CA352069070 NM_001354618.2:c.1417T>A CA352069077 NM_001354618.2:c.1417T>C