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: PA916038697

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237335

ClinVar RCV Id: RCV000233829 RCV000485354 RCV000568460 RCV000765730 RCV001358259 RCV001798730 RCV001800589 RCV003463647 RCV003998742

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341559.1:p.Val76Ile	CA10582156 NM_001354630.2:c.226G>A