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: PA2826038523

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1768795

ClinVar RCV Id: RCV002383012 RCV003988004

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001161089.1:p.Asp330Glu	CA352053092 NM_001167617.3:c.990T>A CA352053102 NM_001167617.3:c.990T>G