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: PA2826038304

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185023

ClinVar RCV Id: RCV000164376 RCV000629834 RCV002271435 RCV003995338

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001161089.1:p.Lys263Glu	CA004298 NM_001167617.3:c.787A>G