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: PA2825107100

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1779284

ClinVar RCV Id: RCV002401483

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000240.1:p.Leu582His	CA352064267 NM_000249.4:c.1745T>A