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: PA2827899653

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 89884

ClinVar RCV Id: RCV000075360 RCV003451065

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341552.1:p.Ala248Asp	CA006836 NM_001354623.2:c.743C>A