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: PA2827901944

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 847207

ClinVar RCV Id: RCV001050708 RCV002379544

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341554.1:p.Met73Ile	CA028109 NM_001354625.2:c.219G>A CA352053206 NM_001354625.2:c.219G>C CA352053208 NM_001354625.2:c.219G>T