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: PA2825105952

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1786532

ClinVar RCV Id: RCV002430497

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000240.1:p.Glu71Asp	CA352035748 NM_000249.4:c.213A>T CA352035752 NM_000249.4:c.213A>C