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: PA2826040375

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_001161090.1:p.Met190Ile	CA028109 NM_001167618.3:c.570G>A CA352053206 NM_001167618.3:c.570G>C CA352053208 NM_001167618.3:c.570G>T