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: PA2826038534

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_001161089.1:p.Met333Ile	CA028109 NM_001167617.3:c.999G>A CA352053206 NM_001167617.3:c.999G>C CA352053208 NM_001167617.3:c.999G>T