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: PA2827886656

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 560782

ClinVar RCV Id: RCV000679273 RCV001178887 RCV001049050 RCV004004218

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341544.1:p.Ala482Thr	CA352069297 NM_001354615.2:c.1444G>A