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: PA2827899053

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486845

ClinVar RCV Id: RCV000562605 RCV003593992

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341552.1:p.Met18Leu	CA352052087 NM_001354623.2:c.52A>C CA352052089 NM_001354623.2:c.52A>T