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: PA2827904608

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2862496

ClinVar RCV Id: RCV003759316

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341556.1:p.Gln40His	CA352052549 NM_001354627.2:c.120G>C CA352052550 NM_001354627.2:c.120G>T